Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B7
Variant:p.K177_V178Splc
Back to variants list

HSD3B7

NM_025193.4:p.K177_V178Splc

Associated Papers

Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.

Yoldaş Çelik M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

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."