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Browse result for Marinesco-Sjogren syndrome
※ introduction A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Reference
DiseaseOntology: Marinesco-Sjogren syndrome
Reference
DiseaseOntology: Marinesco-Sjogren syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD12632 | Q9H173 | 64374 | SIL1 | Nucleotide exchange factor SIL1 | Homo sapiens |