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Acute rhabdomyolysis v0.6 | PGK1 | Arina Puzriakova reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute rhabdomyolysis v0.2 | PGK1 |
Arina Puzriakova gene: PGK1 was added gene: PGK1 was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PGK1 were set to 19157875; 16567715; 1547346; 22348148 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, OMIM:300653 |