Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.R183*
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NR1H4

NM_001206979.2:p.R183*

Associated Papers

NR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.

Yang CY et al.

Clinical Case Reports, 2024

Progressive familial intrahepatic cholestasis - farnesoid X receptor deficiency due to NR1H4 mutation: A case report.

Czubkowski P et al.

World Journal of Clinical Cases, 2021

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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."