Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.T175M
Back to variants list

ABCB4

NM_000443.4:p.T175M

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM6_ESM.xlsx › Supplementary_Data_3_pathogenic

A BCB4 variant is associated with hepatobiliary MR abnormalities in people with low-phospholipid-associated cholelithiasis syndrome.

Biyoukar M et al.

Jhep Reports : Innovation in Hepatology, 2022

36277956 (PubMed )
Supplement: mmc1.pdf

The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges.

Jeyaraj R et al.

Genes, 2021

Low-phospholipid-associated cholelithiasis syndrome: Prevalence, clinical features, and comorbidities.

Dong C et al.

Jhep Reports : Innovation in Hepatology, 2021

33554096 (PubMed )
Supplement: mmc1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."