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Likely inborn error of metabolism - targeted testing not possible v1.47 | ABCB4 |
Ivone Leong Source NHS GMS was added to ABCB4. Source London North GLH was added to ABCB4. |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | ABCB4 |
Ellen McDonagh gene: ABCB4 was added gene: ABCB4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABCB4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCB4 were set to 27604308 Phenotypes for gene: ABCB4 were set to Gallbladder disease 1 600803 AD, AR; Cholestasis, progressive familial intrahepatic 3 602347 AR; Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport); Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR |