Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.N140ins1
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NR1H4

NM_001206979.2:p.N140ins1

Associated Papers

Newer variants of progressive familial intrahepatic cholestasis.

Vinayagamoorthy V et al.

World Journal of Hepatology, 2021

Targeting FXR in Cholestasis.

Keitel V et al.

Handbook of Experimental Pharmacology, 2019

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

Gomez-Ospina N et al.

Nature Communications, 2016

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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."