eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | ataxia with isolated vitamin e deficiency |
| Comorbidity | C0024437|macular degeneration |
| Sentences | 1 |
| PubMedID- 25066259 | Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin e deficiency with a novel c.717 del c mutation in the ttpa gene. |
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