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Likely inborn error of metabolism - targeted testing not possible v1.47 | PDP2 |
Ivone Leong Source NHS GMS was added to PDP2. Source London North GLH was added to PDP2. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | PDP2 |
Ellen McDonagh gene: PDP2 was added gene: PDP2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: PDP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDP2 were set to 27604308 Phenotypes for gene: PDP2 were set to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) |