Citrin deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Citrin deficiency | C1997910 | SLC25A13 | Causal Pathogenic evidence from ClinVar | 10369257, 12512993, 14680984, 19036621, 21134364, 21507300, 22710133, 23022256, 24586645, 27405544, 27577219 | ClinVar |