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| Glycogen storage disease v0.3 | PGK1 | Carol Hardy reviewed gene: PGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoglycerate kinase 1 deficiency 300653; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Glycogen storage disease v0.2 | PGK1 |
Ivone Leong gene: PGK1 was added gene: PGK1 was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency 300653 |
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