Varaico: Literature-Extracted Genetic Variants

Gene:ATP8B1
Variant:p.M1V
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ATP8B1

NM_001374385.1:p.M1V

Associated Papers

Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations.

Cariello M et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018

Functional variants of the central bile acid sensor FXR identified in intrahepatic cholestasis of pregnancy.

Van Mil SW et al.

Gastroenterology, 2007

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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."