Varaico: Literature-Extracted Genetic Variants

Gene:KLHL1
Variant:p.L419insFs
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KLHL1

NM_020866.3:p.L419insFs

Associated Papers

Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome.

Uchiumi T et al.

Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2013

Identification of a novel 974C-->G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids.

Corpechot C et al.

The American Journal of Gastroenterology, 2006

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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."