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| Hereditary Neuropathy v1.147 | Bryony Thompson Copied gene PRPS1 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.147 | PRPS1 |
Bryony Thompson gene: PRPS1 was added gene: PRPS1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PRPS1 were set to 17701900; 24285972; 25491489; 25182139 Phenotypes for gene: PRPS1 were set to Charcot Marie Tooth disease, X linked recessive, 5, 311070; HMSN |
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