List of bibliographic references
Number of relevant bibliographic references: 5.
List of associated KwdEn.i
Nombre de
documents | Descripteur |
|---|
| 3 | Mutation |
| 2 | Exome (genetics) |
| 2 | Genetics |
| 2 | Heterozygote |
| 2 | Human |
| 2 | Humans |
| 1 | Alleles |
| 1 | Binding protein |
| 1 | Bone Diseases, Developmental (genetics) |
| 1 | Death, Sudden, Cardiac (etiology) |
| 1 | Death, Sudden, Cardiac (pathology) |
| 1 | Diphosphates |
| 1 | Dysplasia |
| 1 | Exons (genetics) |
| 1 | Female |
| 1 | Fibrillin-1 (genetics) |
| 1 | Gene Deletion |
| 1 | Genes, Essential (genetics) |
| 1 | Genetic Complementation Test |
| 1 | Infant |
| 1 | Inorganic Pyrophosphatase (genetics) |
| 1 | Inorganic Pyrophosphatase (metabolism) |
| 1 | Latent TGF-beta Binding Proteins (genetics) |
| 1 | Limb Deformities, Congenital (genetics) |
| 1 | Male |
| 1 | Membrane Potential, Mitochondrial (genetics) |
| 1 | Microbial Viability |
| 1 | Microfilament Proteins (genetics) |
| 1 | Mitochondria (enzymology) |
| 1 | Mitochondria (metabolism) |
| 1 | Mitochondria (pathology) |
| 1 | Mitochondrial Proteins (genetics) |
| 1 | Mitochondrial Proteins (metabolism) |
| 1 | Mutation (genetics) |
| 1 | Mutation, Missense |
| 1 | Mutation, Missense (genetics) |
| 1 | Phenotype |
| 1 | Proton Pumps (deficiency) |
| 1 | Proton Pumps (genetics) |
| 1 | Proton Pumps (metabolism) |
| 1 | Saccharomyces cerevisiae (cytology) |
| 1 | Saccharomyces cerevisiae (enzymology) |
| 1 | Saccharomyces cerevisiae (genetics) |
| 1 | Saccharomyces cerevisiae Proteins (genetics) |
| 1 | Saccharomyces cerevisiae Proteins (metabolism) |
| 1 | Transforming Growth Factor beta (genetics) |
| 1 | Weill-Marchesani Syndrome (genetics) |
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