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| Likely inborn error of metabolism - targeted testing not possible v1.47 | AKR1D1 |
Ivone Leong Source NHS GMS was added to AKR1D1. Source London North GLH was added to AKR1D1. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | AKR1D1 |
Ellen McDonagh gene: AKR1D1 was added gene: AKR1D1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 27604308; 24816252 Phenotypes for gene: AKR1D1 were set to ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 2 235555 |
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