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DDG2P v3.12 PUS1 Achchuthan Shanmugasundram reviewed gene: PUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32287105, 30588737, 17056637, 26556812, 25227147; Phenotypes: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 PUS1 Achchuthan Shanmugasundram gene: PUS1 was added
gene: PUS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS1 were set to 32287105; 30588737; 17056637; 26556812; 25227147
Phenotypes for gene: PUS1 were set to MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, OMIM:600462