Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.S593R
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ABCB11

NM_003742.4:p.S593R

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

Molecular Modelling and Evaluation of Hidden Information in ABCB11 Gene Mutations.

M Z et al.

Journal of Biomedical Physics & Engineering, 2019

Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

Varma S et al.

Hepatology (baltimore, Md.), 2015

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

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.

Shimizu H et al.

American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2011

Update on progressive familial intrahepatic cholestasis.

Alissa FT et al.

Journal of Pediatric Gastroenterology and Nutrition, 2008

The bile salt export pump.

Stieger B et al.

Pflugers Archiv : European Journal of Physiology, 2007

Pharmacogenetics of hepatocellular transporters.

Pauli-Magnus C et al.

Pharmacogenetics, 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."