Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.P243S
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SRD5A2

NM_000348.4:p.P243S

Associated Papers

Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.

Jing H et al.

Clinical Genetics, 2026

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

Mao Y et al.

Asian Journal of Andrology, 2025

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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."