Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.E269_F271delFs
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HSD3B7

NM_025193.4:p.E269_F271delFs

Associated Papers

Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis.

Nittono H et al.

Frontiers in Pediatrics, 2024

Inborn errors of bile acid metabolism in Japan.

Mizuochi T et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2023

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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."