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| Hereditary Neuropathy v1.95 | Bryony Thompson Copied gene GJB1 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.95 | GJB1 |
Bryony Thompson gene: GJB1 was added gene: GJB1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: GJB1 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: GJB1 were set to 8266101; 17100997; 17353473 Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800; MONDO:0010549; HMSN |
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