Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G622E
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ABCB4

NM_000443.4:p.G622E

Associated Papers

Clinical, genetic and functional perspectives on ATP-binding cassette subfamily B member 4 variants in five cholestasis adults.

Weng YH et al.

World Journal of Gastroenterology, 2025

EASL Clinical Practice Guidelines on genetic cholestatic liver diseases.

Unknown Author

Journal of Hepatology, 2024

A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.

Zheng Y et al.

Molecular Genetics & Genomic Medicine, 2024

Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature.

Vitale G et al.

Cancers, 2022

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

Wang HH et al.

Genes, 2022

Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.

Ferkingstad E et al.

Nature Communications, 2018

30504769 (PubMed )
Supplement: 41467_2018_7460_MOESM1_ESM.pdf

ABCB4 Gene Aberrations in Human Liver Disease: An Evolving Spectrum.

Reichert MC et al.

Seminars in Liver Disease, 2018

Genetics of gallstone disease.

Rebholz C et al.

European Journal of Clinical Investigation, 2018

Common genetic variation and risk of gallbladder cancer in India: a case-control genome-wide association study.

Mhatre S et al.

The Lancet. Oncology, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

A letter on ABCB4 from Iceland: On the highway to liver disease.

Lammert F et al.

Clinics and Research in Hepatology and Gastroenterology, 2015

Large-scale whole-genome sequencing of the Icelandic population.

Gudbjartsson DF et al.

Nature Genetics, 2015

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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."