Varaico: Literature-Extracted Genetic Variants

Gene:ABCB11
Variant:p.K603K
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ABCB11

NM_003742.4:p.K603K

Associated Papers

ABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.

Li LT et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2020

Splicing analysis of rare/novel synonymous or intronic variants identified in ABCB11 heterozygotes presenting as progressive intrahepatic cholestasis with low γ-glutamyltransferase.

Wang NL et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2018

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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."