Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.R145W
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SRD5A2

NM_000348.4:p.R145W

Associated Papers

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.

Kumar A et al.

Archives of Sexual Behavior, 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

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cao Y et al.

Cell Research, 2020

32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7

Mutational analysis of SRD5A2: From gene to functional kinetics in individuals with steroid 5α-reductase 2 deficiency.

Ramos L et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2020

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

Batista RL et al.

The Application of Clinical Genetics, 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

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.

Chávez B et al.

Molecular Genetics & Genomic Medicine, 2014

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

Nicoletti A et al.

Clinical Endocrinology, 2005

Natural mutagenesis study of the human steroid 5 alpha-reductase 2 isozyme.

Wigley WC et al.

Biochemistry, 1994

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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."