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Metal Metabolism Disorders v0.45 | ATP7A |
Bryony Thompson gene: ATP7A was added gene: ATP7A was added to Metal Metabolism Disorders. Sources: Expert Review Green 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 Disorders of copper metabolism; Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) |