Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.W138R
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ABCB4

NM_000443.4:p.W138R

Associated Papers

Novel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.

Sharabati I et al.

Annals of Medicine and Surgery (2012), 2025

Outcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.

Gonzales E et al.

Jhep Reports : Innovation in Hepatology, 2023

37701337 (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

The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Jacquemin E et al.

Gastroenterology, 2001

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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."