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Glycogen Storage Diseases v0.49 | PHKA2 | Daniel Flanagan reviewed gene: PHKA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 10330341; Phenotypes: Glycogen storage disease, type IXa1, Glycogen storage disease, type IXa2; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Glycogen Storage Diseases v0.0 | PHKA2 |
Zornitza Stark gene: PHKA2 was added gene: PHKA2 was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHKA2 was set to Unknown |