Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.R94Splc
Back to variants list

SRD5A2

NM_000348.4:p.R94Splc

Associated Papers

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development.

Mao Y et al.

Asian Journal of Andrology, 2025

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

Bertelloni S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

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."