Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G602W
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ABCB4

NM_000443.4:p.G602W

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

Identification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.

Wang S et al.

Scientific Reports, 2024

39521930 (PubMed )
Supplement: 41598_2024_79123_MOESM1_ESM.pdf

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

Novel mutation in a Chinese patient with progressive familial intrahepatic cholestasis type 3.

Sun HZ et al.

World Journal of Gastroenterology, 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."