Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.K35N
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SRD5A2

NM_000348.4:p.K35N

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

The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Batista RL et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.

Fan L et al.

Molecular Genetics & Genomic Medicine, 2020

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Batista RL et al.

The Application of Clinical Genetics, 2020

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

Han B et al.

Biomed Research International, 2020

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

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."