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| Hereditary Neuropathy v1.66 | Bryony Thompson Copied gene ATP7A from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.66 | ATP7A |
Bryony Thompson gene: ATP7A was added gene: ATP7A was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert Review Green,NHS GMS,Royal Melbourne Hospital Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATP7A were set to 20170900; 33137485; 31969342; 31558336 Phenotypes for gene: ATP7A were set to Spinal muscular atrophy, distal, X-linked 3, MIM# 300489; dHMN/dSMA |
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