Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.W658*
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ABCB4

NM_000443.4:p.W658*

Associated Papers

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

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

Wang HH et al.

Genes, 2022

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

ABCB4 gene mutation-associated cholelithiasis in adults.

Rosmorduc O et al.

Gastroenterology, 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."