Activity
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2 actions
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| Likely inborn error of metabolism v1.47 | PHKG2 |
Ivone Leong Source NHS GMS was added to PHKG2. Source London North GLH was added to PHKG2. |
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| Likely inborn error of metabolism v0.4 | PHKG2 |
Ellen McDonagh gene: PHKG2 was added gene: PHKG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PHKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PHKG2 were set to 27604308 Phenotypes for gene: PHKG2 were set to hepatomegaly and variable myopathy; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen storage disease IXc, 613027; Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders); Cirrhosis due to liver phosphorylase kinase deficiency |
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