Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.A117D
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SRD5A2

NM_000348.4:p.A117D

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

New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.

Gui B et al.

Journal of Medical Genetics, 2019

[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency].

Song YN et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

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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."