Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.L591Q
Back to variants list

ABCB4

NM_000443.4:p.L591Q

Associated Papers

Genetic Analysis of ABCB4 Mutations and Variants Related to the Pathogenesis and Pathophysiology of Low Phospholipid-Associated Cholelithiasis.

Wang HH et al.

Genes, 2022

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Dong C et al.

Jhep Reports : Innovation in Hepatology, 2021

33554096 (PubMed )
Supplement: mmc1.pdf

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

Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.

Wang LL et al.

Basic & Clinical Pharmacology & Toxicology, 2011

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."