Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.Y136*
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SRD5A2

NM_000348.4:p.Y136*

Associated Papers

[Clinical, hormonal and molecular genetic characteristics of 18 cases of disorders of sex development (DSD) 46,XY associated with variants in the SRD5A2 gene].

Kalinchenko NY et al.

Problemy Endokrinologii, 2025

The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.

Zhang W et al.

Andrology, 2024

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Tang Y et al.

Endocrine Connections, 2023

Whole-exome sequencing study of hypospadias.

Chen Z et al.

Iscience, 2023

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.

Han B et al.

Biomed Research International, 2020

Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.

Marzuki NS et al.

International Journal of Endocrinology, 2019

Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.

Cheng T et al.

Asian Journal of Andrology, 0

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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."