Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.N105delFs
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HSD3B7

NM_025193.4:p.N105delFs

Associated Papers

Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.

Kimura A et al.

Digestive Diseases and Sciences, 2021

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

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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."