Varaico: Literature-Extracted Genetic Variants

Gene:ABCB1
Variant:p.A544D
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ABCB1

NM_001348946.2:p.A544D

Associated Papers

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking.

Dixon PH et al.

Human Molecular Genetics, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."