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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCB11 |
Ivone Leong Source NHS GMS was added to ABCB11. Source London North GLH was added to ABCB11. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB11 |
Ellen McDonagh gene: ABCB11 was added gene: ABCB11 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCB11 were set to 27604308 Phenotypes for gene: ABCB11 were set to Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport); Cholestasis, benign recurrent intrahepatic, 2 605479; Cholestasis, progressive familial intrahepatic 2 601847 |