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| Hereditary Neuropathy v1.172 | Bryony Thompson Copied gene UBA1 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.172 | UBA1 |
Bryony Thompson gene: UBA1 was added gene: UBA1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: UBA1 were set to 18179898; 32181232; 31932168; 29034082; 27699224; 26028276; 23518311 Phenotypes for gene: UBA1 were set to dHMN/dSMA; Spinal muscular atrophy, X-linked 2, MIM# 301830 |
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