Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.M301T
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ABCB4

NM_000443.4:p.M301T

Associated Papers

VarMeter: a prediction method for the impact of glycogene variants.

Ohno S et al.

Journal of Human Genetics, 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

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

Functional Characterization of ABCB4 Mutations Found in Low Phospholipid-Associated Cholelithiasis (LPAC).

Kim TH et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2013

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.

Poupon R et al.

Hepatology (baltimore, Md.), 2013

Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).

Oude Elferink RP et al.

Pflugers Archiv : European Journal of Physiology, 2007

ABCB4 gene mutation-associated cholelithiasis in adults.

Rosmorduc O et al.

Gastroenterology, 2003

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