Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.F165I
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ABCB4

NM_000443.4:p.F165I

Associated Papers

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

Khabou B et al.

The International Journal of Biochemistry & Cell Biology, 2017

Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).

Kim TH et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2013

Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.

Rosmorduc O et al.

Orphanet Journal of Rare Diseases, 2007

Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).

Oude Elferink RP et al.

Pflugers Archiv : European Journal of Physiology, 2007

ABCB4 gene mutation-associated cholelithiasis in adults.

Rosmorduc O et al.

Gastroenterology, 2003

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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."