Activity
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2 actions
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| Likely inborn error of metabolism v1.47 | CYP7A1 |
Ivone Leong Source NHS GMS was added to CYP7A1. Source London North GLH was added to CYP7A1. |
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| Likely inborn error of metabolism v0.4 | CYP7A1 |
Ellen McDonagh gene: CYP7A1 was added gene: CYP7A1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: CYP7A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP7A1 were set to 27604308 Phenotypes for gene: CYP7A1 were set to Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis); Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency |
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