Varaico: Literature-Extracted Genetic Variants

Gene:NR1H4
Variant:p.S145F
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NR1H4

NM_001206993.2:p.S145F

Associated Papers

Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients.

Lai H et al.

Bmc Medical Genomics, 2022

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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."