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| Ataxia v1.104 | Bryony Thompson Copied gene PRPS1 from panel Ataxia - adult onset | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.104 | PRPS1 |
Bryony Thompson gene: PRPS1 was added gene: PRPS1 was added to Ataxia. Sources: Expert Review Amber,Literature Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PRPS1 were set to 33898739; 28967191 Phenotypes for gene: PRPS1 were set to Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy |
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