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Likely inborn error of metabolism - targeted testing not possible v1.47 | APRT |
Ivone Leong Source NHS GMS was added to APRT. Source London North GLH was added to APRT. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | APRT |
Ellen McDonagh gene: APRT was added gene: APRT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APRT were set to 27604308 Phenotypes for gene: APRT were set to Adenine phosphoribosyltransferase deficiency 614723; Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) |