Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.G319E
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ABCB4

NM_000443.4:p.G319E

Associated Papers

A homozygous ABCB4 mutation causing an LPAC syndrome evolves into cholangiocarcinoma.

Khabou B et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.

Khabou B et al.

The International Journal of Biochemistry & Cell Biology, 2017

[44-year-old woman with elevated liver enzymes and a family history for cholelithiasis].

Hopf C et al.

Der Internist, 2011

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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."