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Likely inborn error of metabolism - targeted testing not possible v1.47 | PGK1 |
Ivone Leong Source NHS GMS was added to PGK1. Source London North GLH was added to PGK1. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PGK1 |
Ellen McDonagh gene: PGK1 was added gene: PGK1 was added to Inborn errors of metabolism. Sources: Expert Review Green 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 27604308 Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency |