eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hartnup disease |
| Comorbidity | C0035334|retinitis pigmentosa |
| Sentences | 1 |
| PubMedID- 25649381 | In the present study, we confirm that recessive variants affecting ush2a function are a common cause of retinitis pigmentosa with disease-causing variants being spread throughout the gene. |
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