Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.S162R
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HSD3B7

NM_025193.4:p.S162R

Associated Papers

Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.

Mizuochi T et al.

Pediatric Research, 2010

Cholestatic liver disease in adults may be due to an inherited defect in bile acid biosynthesis.

Fischler B et al.

Journal of Internal Medicine, 2007

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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."