Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.R571G
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ABCB11

NM_003742.4:p.R571G

Associated Papers

Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.

Mitra S et al.

Fetal and Pediatric Pathology, 2020

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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."