Varaico: Literature-Extracted Genetic Variants

Gene:KLHL1
Variant:p.T175A
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KLHL1

NM_020866.3:p.T175A

Associated Papers

An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy.

Dixon PH et al.

Scientific Reports, 2017

Heterozygous ABCB4 mutations in children with cholestatic liver disease.

Gordo-Gilart R et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2016

ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

Ziol M et al.

Gastroenterology, 2008

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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."