Varaico: Literature-Extracted Genetic Variants

Gene:ABCB1
Variant:p.I541F
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ABCB1

NM_001348946.2:p.I541F

Associated Papers

ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.

Reichert MC et al.

Seminars in Liver Disease, 2018

A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature.

Delaunay JL et al.

Hepatology (baltimore, Md.), 2009

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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."