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| Likely inborn error of metabolism - targeted testing not possible v1.47 | HSD3B7 |
Ivone Leong Source NHS GMS was added to HSD3B7. Source London North GLH was added to HSD3B7. |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | HSD3B7 |
Ellen McDonagh gene: HSD3B7 was added gene: HSD3B7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HSD3B7 were set to 27604308 Phenotypes for gene: HSD3B7 were set to 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis); Bile acid synthesis defect, congenital, 1, 607765 |
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