Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.R27*
Back to variants list

HSD3B7

NM_025193.4:p.R27*

Associated Papers

Failure of cholic acid therapy in a child with a bile acid synthesis defect and harboring plectin mutations.

Thébaut A et al.

Journal of Pediatric Gastroenterology and Nutrition, 2024

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."