Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.W493*
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ABCB11

NM_003742.4:p.W493*

Associated Papers

An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.

Bell EL et al.

Journal of Lipid Research, 2025

40513781 (PubMed )
Supplement: mmc1.xlsx › Supplemental_Table_1

Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.

Sahloul A et al.

Frontiers in Surgery, 2023

Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Giesen N et al.

Haematologica, 2022

35045690 (PubMed )
Supplement: 2021_279360_GIESEN_TABS2_SUPPL.xlsx › somatic_small_functional_varian

The ESCRT-III molecules regulate the apical targeting of bile salt export pump.

Wu SH et al.

Journal of Biomedical Science, 2021

A novel ABCB11 mutation in an Iranian girl with progressive familial intrahepatic cholestasis.

Saber S et al.

Indian Journal of Human Genetics, 2013

The bile salt export pump (BSEP) in health and disease.

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.

Treepongkaruna S et al.

World Journal of Gastroenterology, 2009

Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography.

Chen HL et al.

The Journal of Pediatrics, 2008

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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."