Varaico: Literature-Extracted Genetic Variants

Gene:ABCB4
Variant:p.D179Splc
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ABCB4

NM_000443.4:p.D179Splc

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
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