Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.A737_I738Splc
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ABCB4

NM_000443.4:p.A737_I738Splc

Associated Papers

A family with gallstone disease: defining inherited risk in the era of clinical genetic testing.

Weber SN et al.

Internal and Emergency Medicine, 2025

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

Wang HH et al.

Genes, 2022

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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."