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| Likely inborn error of metabolism - targeted testing not possible v1.47 | AMPD1 |
Ivone Leong Source NHS GMS was added to AMPD1. Source London North GLH was added to AMPD1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AMPD1 |
Ellen McDonagh gene: AMPD1 was added gene: AMPD1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMPD1 were set to 27604308 Phenotypes for gene: AMPD1 were set to Myoadenylate deaminase deficiency (Disorders of purine metabolism); Myopathy due to myoadenylate deaminase deficiency 615511 |
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