Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.T593M
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ABCB4

NM_000443.4:p.T593M

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

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

Poupon R et al.

Hepatology (baltimore, Md.), 2013

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