Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.G562D
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ABCB11

NM_003742.4:p.G562D

Associated Papers

A genes and health recall study of intrahepatic cholestasis of pregnancy and cholestatic liver disease.

Constantinides M et al.

Communications Medicine, 2025

New hope in treating progressive familial intrahepatic cholestasis in children.

Mkarem LE et al.

World Journal of Hepatology, 2025

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

Structural basis of bile salt extrusion and small-molecule inhibition in human BSEP.

Liu H et al.

Nature Communications, 2023

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.

Mareux E et al.

International Journal of Molecular Sciences, 2022

Role of Splicing Regulatory Elements and In Silico Tools Usage in the Identification of Deep Intronic Splicing Variants in Hereditary Breast/Ovarian Cancer Genes.

Moles-Fernández A et al.

Cancers, 2021

34283047 (PubMed )
Supplement: cancers-13-03341-s001.zip › 2_Supplementary_table_S2A_2B.xlsx › Suppl_Table_2A

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.

Li LT et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.

Wang NL et al.

Plos One, 2016

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

Kubitz R et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

Progressive familial intrahepatic cholestasis.

Davit-Spraul A et al.

Orphanet Journal of Rare Diseases, 2009

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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."