ABCB4 p.Arg144*

ClinVar: c.430C>T , p.Arg144* D , Pathogenic

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[hide] Floreani A, Carderi I, Paternoster D, Soardo G, Azzaroli F, Esposito W, Variola A, Tommasi AM, Marchesoni D, Braghin C, Mazzella G
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations.
Aliment Pharmacol Ther. 2006 Jun 1;23(11):1649-53., [PMID:16696816]

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[hide] Gendrot C, Bacq Y, Brechot MC, Lansac J, Andres C
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.
J Med Genet. 2003 Mar;40(3):e32., [PMID:12624161]

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