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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Germline De Novo Mutations in <italic>GNB1</italic> Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures</title><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia</nlm:aff></affiliation></author><author><name sortKey="Kury, Sebastien" sort="Kury, Sebastien" uniqKey="Kury S" first="Sébastien" last="Küry">Sébastien Küry</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T." last="Myers">Candace T. Myers</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Anyane Yeboa, Kwame" sort="Anyane Yeboa, Kwame" uniqKey="Anyane Yeboa K" first="Kwame" last="Anyane-Yeboa">Kwame Anyane-Yeboa</name><affiliation><nlm:aff id="aff5">Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Cogne, Benjamin" sort="Cogne, Benjamin" uniqKey="Cogne B" first="Benjamin" last="Cogné">Benjamin Cogné</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Bialer, Martin" sort="Bialer, Martin" uniqKey="Bialer M" first="Martin" last="Bialer">Martin Bialer</name><affiliation><nlm:aff id="aff6">Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Xia, Fan" sort="Xia, Fan" uniqKey="Xia F" first="Fan" last="Xia">Fan Xia</name><affiliation><nlm:aff id="aff7">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Hemati, Parisa" sort="Hemati, Parisa" uniqKey="Hemati P" first="Parisa" last="Hemati">Parisa Hemati</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Riviello, James" sort="Riviello, James" uniqKey="Riviello J" first="James" last="Riviello">James Riviello</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Mehaffey, Michele" sort="Mehaffey, Michele" uniqKey="Mehaffey M" first="Michele" last="Mehaffey">Michele Mehaffey</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Besnard, Thomas" sort="Besnard, Thomas" uniqKey="Besnard T" first="Thomas" last="Besnard">Thomas Besnard</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Becraft, Emily" sort="Becraft, Emily" uniqKey="Becraft E" first="Emily" last="Becraft">Emily Becraft</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Wadley, Alexandrea" sort="Wadley, Alexandrea" uniqKey="Wadley A" first="Alexandrea" last="Wadley">Alexandrea Wadley</name><affiliation><nlm:aff id="aff9">Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA</nlm:aff></affiliation></author><author><name sortKey="Politi, Anya Revah" sort="Politi, Anya Revah" uniqKey="Politi A" first="Anya Revah" last="Politi">Anya Revah Politi</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Colombo, Sophie" sort="Colombo, Sophie" uniqKey="Colombo S" first="Sophie" last="Colombo">Sophie Colombo</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Zhu, Xiaolin" sort="Zhu, Xiaolin" uniqKey="Zhu X" first="Xiaolin" last="Zhu">Xiaolin Zhu</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Ren, Zhong" sort="Ren, Zhong" uniqKey="Ren Z" first="Zhong" last="Ren">Zhong Ren</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Andrews, Ian" sort="Andrews, Ian" uniqKey="Andrews I" first="Ian" last="Andrews">Ian Andrews</name><affiliation><nlm:aff id="aff10">School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW 2052, Australia</nlm:aff></affiliation></author><author><name sortKey="Dudding Byth, Tracy" sort="Dudding Byth, Tracy" uniqKey="Dudding Byth T" first="Tracy" last="Dudding-Byth">Tracy Dudding-Byth</name><affiliation><nlm:aff id="aff11">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308, Australia</nlm:aff></affiliation></author><author><name sortKey="Schneider, Amy L" sort="Schneider, Amy L" uniqKey="Schneider A" first="Amy L." last="Schneider">Amy L. Schneider</name><affiliation><nlm:aff id="aff13">Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia</nlm:aff></affiliation></author><author><name sortKey="Wallace, Geoffrey" sort="Wallace, Geoffrey" uniqKey="Wallace G" first="Geoffrey" last="Wallace">Geoffrey Wallace</name><affiliation><nlm:aff id="aff14">Department of Neurosciences, Royal Children’s Hospital, Herston School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Rosen, Aaron B I" sort="Rosen, Aaron B I" uniqKey="Rosen A" first="Aaron B. I." last="Rosen">Aaron B. I. Rosen</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Schelley, Susan" sort="Schelley, Susan" uniqKey="Schelley S" first="Susan" last="Schelley">Susan Schelley</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M." last="Enns">Gregory M. Enns</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Corre, Pierre" sort="Corre, Pierre" uniqKey="Corre P" first="Pierre" last="Corre">Pierre Corre</name><affiliation><nlm:aff id="aff15">Service de Stomatologie, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Dalton, Joline" sort="Dalton, Joline" uniqKey="Dalton J" first="Joline" last="Dalton">Joline Dalton</name><affiliation><nlm:aff id="aff16">Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Latypova, Xenia" sort="Latypova, Xenia" uniqKey="Latypova X" first="Xénia" last="Latypova">Xénia Latypova</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Schmitt, Sebastien" sort="Schmitt, Sebastien" uniqKey="Schmitt S" first="Sébastien" last="Schmitt">Sébastien Schmitt</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Guzman, Edwin" sort="Guzman, Edwin" uniqKey="Guzman E" first="Edwin" last="Guzman">Edwin Guzman</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Moore, Christine" sort="Moore, Christine" uniqKey="Moore C" first="Christine" last="Moore">Christine Moore</name><affiliation><nlm:aff id="aff6">Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Bier, Louise" sort="Bier, Louise" uniqKey="Bier L" first="Louise" last="Bier">Louise Bier</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L." last="Heinzen">Erin L. Heinzen</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Karachunski, Peter" sort="Karachunski, Peter" uniqKey="Karachunski P" first="Peter" last="Karachunski">Peter Karachunski</name><affiliation><nlm:aff id="aff16">Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Shur, Natasha" sort="Shur, Natasha" uniqKey="Shur N" first="Natasha" last="Shur">Natasha Shur</name><affiliation><nlm:aff id="aff17">Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208, USA</nlm:aff></affiliation></author><author><name sortKey="Grebe, Theresa" sort="Grebe, Theresa" uniqKey="Grebe T" first="Theresa" last="Grebe">Theresa Grebe</name><affiliation><nlm:aff id="aff18">Phoenix Children’s Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724, USA</nlm:aff></affiliation></author><author><name sortKey="Basinger, Alice" sort="Basinger, Alice" uniqKey="Basinger A" first="Alice" last="Basinger">Alice Basinger</name><affiliation><nlm:aff id="aff19">Cook Children’s Physician Network, Fort Worth, TX 76102, USA</nlm:aff></affiliation></author><author><name sortKey="Nguyen, Joanne M" sort="Nguyen, Joanne M" uniqKey="Nguyen J" first="Joanne M." last="Nguyen">Joanne M. Nguyen</name><affiliation><nlm:aff id="aff20">Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Wierenga, Klaas" sort="Wierenga, Klaas" uniqKey="Wierenga K" first="Klaas" last="Wierenga">Klaas Wierenga</name><affiliation><nlm:aff id="aff9">Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA</nlm:aff></affiliation></author><author><name sortKey="Bernstein, Jonathan A" sort="Bernstein, Jonathan A" uniqKey="Bernstein J" first="Jonathan A." last="Bernstein">Jonathan A. Bernstein</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation><nlm:aff id="aff13">Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff21">Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff22">Department of Paediatrics, Royal Children’s Hospital, University of Melbourne, Melbourne, VIC 3050, Australia</nlm:aff></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A." last="Rosenfeld">Jill A. Rosenfeld</name><affiliation><nlm:aff id="aff7">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C." last="Mefford">Heather C. Mefford</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">27108799</idno><idno type="pmc">4863562</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863562</idno><idno type="RBID">PMC:4863562</idno><idno type="doi">10.1016/j.ajhg.2016.03.011</idno><date when="2016">2016</date><idno type="wicri:Area/Pmc/Corpus">001216</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001216</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Germline De Novo Mutations in <italic>GNB1</italic> Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures</title><author><name sortKey="Petrovski, Slave" sort="Petrovski, Slave" uniqKey="Petrovski S" first="Slavé" last="Petrovski">Slavé Petrovski</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia</nlm:aff></affiliation></author><author><name sortKey="Kury, Sebastien" sort="Kury, Sebastien" uniqKey="Kury S" first="Sébastien" last="Küry">Sébastien Küry</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Myers, Candace T" sort="Myers, Candace T" uniqKey="Myers C" first="Candace T." last="Myers">Candace T. Myers</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Anyane Yeboa, Kwame" sort="Anyane Yeboa, Kwame" uniqKey="Anyane Yeboa K" first="Kwame" last="Anyane-Yeboa">Kwame Anyane-Yeboa</name><affiliation><nlm:aff id="aff5">Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Cogne, Benjamin" sort="Cogne, Benjamin" uniqKey="Cogne B" first="Benjamin" last="Cogné">Benjamin Cogné</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Bialer, Martin" sort="Bialer, Martin" uniqKey="Bialer M" first="Martin" last="Bialer">Martin Bialer</name><affiliation><nlm:aff id="aff6">Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Xia, Fan" sort="Xia, Fan" uniqKey="Xia F" first="Fan" last="Xia">Fan Xia</name><affiliation><nlm:aff id="aff7">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Hemati, Parisa" sort="Hemati, Parisa" uniqKey="Hemati P" first="Parisa" last="Hemati">Parisa Hemati</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Riviello, James" sort="Riviello, James" uniqKey="Riviello J" first="James" last="Riviello">James Riviello</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Mehaffey, Michele" sort="Mehaffey, Michele" uniqKey="Mehaffey M" first="Michele" last="Mehaffey">Michele Mehaffey</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Besnard, Thomas" sort="Besnard, Thomas" uniqKey="Besnard T" first="Thomas" last="Besnard">Thomas Besnard</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Becraft, Emily" sort="Becraft, Emily" uniqKey="Becraft E" first="Emily" last="Becraft">Emily Becraft</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Wadley, Alexandrea" sort="Wadley, Alexandrea" uniqKey="Wadley A" first="Alexandrea" last="Wadley">Alexandrea Wadley</name><affiliation><nlm:aff id="aff9">Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA</nlm:aff></affiliation></author><author><name sortKey="Politi, Anya Revah" sort="Politi, Anya Revah" uniqKey="Politi A" first="Anya Revah" last="Politi">Anya Revah Politi</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Colombo, Sophie" sort="Colombo, Sophie" uniqKey="Colombo S" first="Sophie" last="Colombo">Sophie Colombo</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Zhu, Xiaolin" sort="Zhu, Xiaolin" uniqKey="Zhu X" first="Xiaolin" last="Zhu">Xiaolin Zhu</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Ren, Zhong" sort="Ren, Zhong" uniqKey="Ren Z" first="Zhong" last="Ren">Zhong Ren</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Andrews, Ian" sort="Andrews, Ian" uniqKey="Andrews I" first="Ian" last="Andrews">Ian Andrews</name><affiliation><nlm:aff id="aff10">School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW 2052, Australia</nlm:aff></affiliation></author><author><name sortKey="Dudding Byth, Tracy" sort="Dudding Byth, Tracy" uniqKey="Dudding Byth T" first="Tracy" last="Dudding-Byth">Tracy Dudding-Byth</name><affiliation><nlm:aff id="aff11">Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308, Australia</nlm:aff></affiliation></author><author><name sortKey="Schneider, Amy L" sort="Schneider, Amy L" uniqKey="Schneider A" first="Amy L." last="Schneider">Amy L. Schneider</name><affiliation><nlm:aff id="aff13">Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia</nlm:aff></affiliation></author><author><name sortKey="Wallace, Geoffrey" sort="Wallace, Geoffrey" uniqKey="Wallace G" first="Geoffrey" last="Wallace">Geoffrey Wallace</name><affiliation><nlm:aff id="aff14">Department of Neurosciences, Royal Children’s Hospital, Herston School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia</nlm:aff></affiliation></author><author><name sortKey="Rosen, Aaron B I" sort="Rosen, Aaron B I" uniqKey="Rosen A" first="Aaron B. I." last="Rosen">Aaron B. I. Rosen</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Schelley, Susan" sort="Schelley, Susan" uniqKey="Schelley S" first="Susan" last="Schelley">Susan Schelley</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Enns, Gregory M" sort="Enns, Gregory M" uniqKey="Enns G" first="Gregory M." last="Enns">Gregory M. Enns</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Corre, Pierre" sort="Corre, Pierre" uniqKey="Corre P" first="Pierre" last="Corre">Pierre Corre</name><affiliation><nlm:aff id="aff15">Service de Stomatologie, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Dalton, Joline" sort="Dalton, Joline" uniqKey="Dalton J" first="Joline" last="Dalton">Joline Dalton</name><affiliation><nlm:aff id="aff16">Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Mercier, Sandra" sort="Mercier, Sandra" uniqKey="Mercier S" first="Sandra" last="Mercier">Sandra Mercier</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Latypova, Xenia" sort="Latypova, Xenia" uniqKey="Latypova X" first="Xénia" last="Latypova">Xénia Latypova</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Schmitt, Sebastien" sort="Schmitt, Sebastien" uniqKey="Schmitt S" first="Sébastien" last="Schmitt">Sébastien Schmitt</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Guzman, Edwin" sort="Guzman, Edwin" uniqKey="Guzman E" first="Edwin" last="Guzman">Edwin Guzman</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Moore, Christine" sort="Moore, Christine" uniqKey="Moore C" first="Christine" last="Moore">Christine Moore</name><affiliation><nlm:aff id="aff6">Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA</nlm:aff></affiliation></author><author><name sortKey="Bier, Louise" sort="Bier, Louise" uniqKey="Bier L" first="Louise" last="Bier">Louise Bier</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Heinzen, Erin L" sort="Heinzen, Erin L" uniqKey="Heinzen E" first="Erin L." last="Heinzen">Erin L. Heinzen</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author><author><name sortKey="Karachunski, Peter" sort="Karachunski, Peter" uniqKey="Karachunski P" first="Peter" last="Karachunski">Peter Karachunski</name><affiliation><nlm:aff id="aff16">Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Shur, Natasha" sort="Shur, Natasha" uniqKey="Shur N" first="Natasha" last="Shur">Natasha Shur</name><affiliation><nlm:aff id="aff17">Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208, USA</nlm:aff></affiliation></author><author><name sortKey="Grebe, Theresa" sort="Grebe, Theresa" uniqKey="Grebe T" first="Theresa" last="Grebe">Theresa Grebe</name><affiliation><nlm:aff id="aff18">Phoenix Children’s Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724, USA</nlm:aff></affiliation></author><author><name sortKey="Basinger, Alice" sort="Basinger, Alice" uniqKey="Basinger A" first="Alice" last="Basinger">Alice Basinger</name><affiliation><nlm:aff id="aff19">Cook Children’s Physician Network, Fort Worth, TX 76102, USA</nlm:aff></affiliation></author><author><name sortKey="Nguyen, Joanne M" sort="Nguyen, Joanne M" uniqKey="Nguyen J" first="Joanne M." last="Nguyen">Joanne M. Nguyen</name><affiliation><nlm:aff id="aff20">Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Bezieau, Stephane" sort="Bezieau, Stephane" uniqKey="Bezieau S" first="Stéphane" last="Bézieau">Stéphane Bézieau</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Wierenga, Klaas" sort="Wierenga, Klaas" uniqKey="Wierenga K" first="Klaas" last="Wierenga">Klaas Wierenga</name><affiliation><nlm:aff id="aff9">Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA</nlm:aff></affiliation></author><author><name sortKey="Bernstein, Jonathan A" sort="Bernstein, Jonathan A" uniqKey="Bernstein J" first="Jonathan A." last="Bernstein">Jonathan A. Bernstein</name><affiliation><nlm:aff id="aff8">Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</nlm:aff></affiliation></author><author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E." last="Scheffer">Ingrid E. Scheffer</name><affiliation><nlm:aff id="aff13">Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff21">Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff22">Department of Paediatrics, Royal Children’s Hospital, University of Melbourne, Melbourne, VIC 3050, Australia</nlm:aff></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A." last="Rosenfeld">Jill A. Rosenfeld</name><affiliation><nlm:aff id="aff7">Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Mefford, Heather C" sort="Mefford, Heather C" uniqKey="Mefford H" first="Heather C." last="Mefford">Heather C. Mefford</name><affiliation><nlm:aff id="aff4">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</nlm:aff></affiliation></author><author><name sortKey="Isidor, Bertrand" sort="Isidor, Bertrand" uniqKey="Isidor B" first="Bertrand" last="Isidor">Bertrand Isidor</name><affiliation><nlm:aff id="aff3">Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</nlm:aff></affiliation></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><affiliation><nlm:aff id="aff1">Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2016">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of <italic>GNB1</italic>, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability of observing 13 or more de novo mutations by chance among 5,855 individuals is very low (p = 7.1 × 10<sup>−21</sup>), implicating <italic>GNB1</italic> as a genome-wide-significant disease-associated gene. The majority of these 13 mutations affect known Gβ binding sites, which suggests that a likely disease mechanism is through the disruption of the protein interface required for Gα-Gβγ interaction (resulting in a constitutively active Gβγ) or through the disruption of residues relevant for interaction between Gβγ and certain downstream effectors (resulting in reduced interaction with the effectors). Strikingly, 8 of the 13 individuals recruited here for a neurodevelopmental disorder have a germline de novo <italic>GNB1</italic> mutation that overlaps a set of five recurrent somatic tumor mutations for which recent functional studies demonstrated a gain-of-function effect due to constitutive activation of G protein downstream signaling cascades for some of the affected residues.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">27108799</article-id><article-id pub-id-type="pmc">4863562</article-id><article-id pub-id-type="publisher-id">S0002-9297(16)30046-5</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2016.03.011</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Germline De Novo Mutations in <italic>GNB1</italic> Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Petrovski</surname><given-names>Slavé</given-names></name><email>slavep@unimelb.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Küry</surname><given-names>Sébastien</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Myers</surname><given-names>Candace T.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Anyane-Yeboa</surname><given-names>Kwame</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Cogné</surname><given-names>Benjamin</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Bialer</surname><given-names>Martin</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Xia</surname><given-names>Fan</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Hemati</surname><given-names>Parisa</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Riviello</surname><given-names>James</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Mehaffey</surname><given-names>Michele</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Besnard</surname><given-names>Thomas</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Becraft</surname><given-names>Emily</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Wadley</surname><given-names>Alexandrea</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Politi</surname><given-names>Anya Revah</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Colombo</surname><given-names>Sophie</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Zhu</surname><given-names>Xiaolin</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Ren</surname><given-names>Zhong</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Andrews</surname><given-names>Ian</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Dudding-Byth</surname><given-names>Tracy</given-names></name><xref rid="aff11" ref-type="aff">11</xref><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Schneider</surname><given-names>Amy L.</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Wallace</surname><given-names>Geoffrey</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><collab>University of Washington Center for Mendelian Genomics</collab></contrib><contrib contrib-type="author"><name><surname>Rosen</surname><given-names>Aaron B.I.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Schelley</surname><given-names>Susan</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Enns</surname><given-names>Gregory M.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Corre</surname><given-names>Pierre</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Dalton</surname><given-names>Joline</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Mercier</surname><given-names>Sandra</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Latypova</surname><given-names>Xénia</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Schmitt</surname><given-names>Sébastien</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Guzman</surname><given-names>Edwin</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Moore</surname><given-names>Christine</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Bier</surname><given-names>Louise</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Heinzen</surname><given-names>Erin L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Karachunski</surname><given-names>Peter</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Shur</surname><given-names>Natasha</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Grebe</surname><given-names>Theresa</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Basinger</surname><given-names>Alice</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Nguyen</surname><given-names>Joanne M.</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Bézieau</surname><given-names>Stéphane</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Wierenga</surname><given-names>Klaas</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Bernstein</surname><given-names>Jonathan A.</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Scheffer</surname><given-names>Ingrid E.</given-names></name><xref rid="aff13" ref-type="aff">13</xref><xref rid="aff21" ref-type="aff">21</xref><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Rosenfeld</surname><given-names>Jill A.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Mefford</surname><given-names>Heather C.</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Isidor</surname><given-names>Bertrand</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Goldstein</surname><given-names>David B.</given-names></name><email>dg2875@cumc.columbia.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor2" ref-type="corresp">∗∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA</aff><aff id="aff2"><label>2</label>Department of Medicine, Austin Health and Royal Melbourne Hospital, University of Melbourne, Melbourne, VIC 3050, Australia</aff><aff id="aff3"><label>3</label>Service de Génétique Médicale, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</aff><aff id="aff4"><label>4</label>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle WA, 98195, USA</aff><aff id="aff5"><label>5</label>Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA</aff><aff id="aff6"><label>6</label>Division of Medical Genetics, Northwell Health, Manhasset, NY 11030, USA</aff><aff id="aff7"><label>7</label>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA</aff><aff id="aff8"><label>8</label>Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA</aff><aff id="aff9"><label>9</label>Section of Genetics, Department of Pediatrics, University of Oklahoma, Oklahoma City, OK 73019, USA</aff><aff id="aff10"><label>10</label>School of Women’s and Children’s Health, University of New South Wales, Kensington, NSW 2052, Australia</aff><aff id="aff11"><label>11</label>Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia</aff><aff id="aff12"><label>12</label>Priority Research Centre GrowUpWell, University of Newcastle, Callaghan, NSW 2308, Australia</aff><aff id="aff13"><label>13</label>Department of Medicine, Austin Health, University of Melbourne, Heidelberg, VIC 3081, Australia</aff><aff id="aff14"><label>14</label>Department of Neurosciences, Royal Children’s Hospital, Herston School of Medicine, University of Queensland, Brisbane, QLD 4072, Australia</aff><aff id="aff15"><label>15</label>Service de Stomatologie, Centre Hospitalier Universitaire Nantes, Nantes 44093, France</aff><aff id="aff16"><label>16</label>Department of Neurology, University of Minnesota, Minneapolis, MN 55454, USA</aff><aff id="aff17"><label>17</label>Division of Genetics, Department of Pediatrics, Albany Medical Center, Albany, NY 12208, USA</aff><aff id="aff18"><label>18</label>Phoenix Children’s Hospital and Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85724, USA</aff><aff id="aff19"><label>19</label>Cook Children’s Physician Network, Fort Worth, TX 76102, USA</aff><aff id="aff20"><label>20</label>Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</aff><aff id="aff21"><label>21</label>Florey Institute for Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3050, Australia</aff><aff id="aff22"><label>22</label>Department of Paediatrics, Royal Children’s Hospital, University of Melbourne, Melbourne, VIC 3050, Australia</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>slavep@unimelb.edu.au</email></corresp><corresp id="cor2"><label>∗∗</label>Corresponding author <email>dg2875@cumc.columbia.edu</email></corresp></author-notes><pub-date pub-type="ppub"><day>05</day><month>5</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>21</day><month>4</month><year>2016</year></pub-date><volume>98</volume><issue>5</issue><fpage>1001</fpage><lpage>1010</lpage><history><date date-type="received"><day>12</day><month>12</month><year>2015</year></date><date date-type="accepted"><day>15</day><month>3</month><year>2016</year></date></history><permissions><copyright-statement>©2016 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2016</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Whole-exome sequencing of 13 individuals with developmental delay commonly accompanied by abnormal muscle tone and seizures identified de novo missense mutations enriched within a sub-region of <italic>GNB1</italic>, a gene encoding the guanine nucleotide-binding protein subunit beta-1, Gβ. These 13 individuals were identified among a base of 5,855 individuals recruited for various undiagnosed genetic disorders. The probability of observing 13 or more de novo mutations by chance among 5,855 individuals is very low (p = 7.1 × 10<sup>−21</sup>), implicating <italic>GNB1</italic> as a genome-wide-significant disease-associated gene. The majority of these 13 mutations affect known Gβ binding sites, which suggests that a likely disease mechanism is through the disruption of the protein interface required for Gα-Gβγ interaction (resulting in a constitutively active Gβγ) or through the disruption of residues relevant for interaction between Gβγ and certain downstream effectors (resulting in reduced interaction with the effectors). Strikingly, 8 of the 13 individuals recruited here for a neurodevelopmental disorder have a germline de novo <italic>GNB1</italic> mutation that overlaps a set of five recurrent somatic tumor mutations for which recent functional studies demonstrated a gain-of-function effect due to constitutive activation of G protein downstream signaling cascades for some of the affected residues.</p></abstract></article-meta><notes><p id="misc0010">Published: April 21, 2016</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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