KB Cells < KCNQ1 Potassium Channel (genetics) < KCNQ1 Potassium Channel (metabolism) | Facettes : |
List of bibliographic references
Number of relevant bibliographic references: 2.Ident. | Authors (with country if any) | Title |
---|---|---|
001340 (2013) | Thomas Eggermann [Allemagne] ; Elizabeth Algar [Australie] ; Pablo Lapunzina [Espagne] ; Deborah Mackay [Royaume-Uni] ; Eamonn R. Maher [Royaume-Uni] ; Marcel Mannens [Pays-Bas] ; Irène Netchine [France] ; Dirk Prawitt [Allemagne] ; Andrea Riccio [Italie] ; I Karen Temple [Royaume-Uni] ; Rosanna Weksberg [Canada] | Clinical utility gene card for: Beckwith–Wiedemann Syndrome |
001C01 (2014) | Julie Demars [France] ; Mansur Ennuri Shmela [Australie] ; Abdul Waheed Khan [Australie] ; Kai Syin Lee [Australie] ; Salah Azzi [France] ; Patrice Dehais [France] ; Irène Netchine [France] ; Sylvie Rossignol [France] ; Yves Le Bouc [France] ; Assam El-Osta [Australie] ; Christine Gicquel [Australie] | Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. |
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