Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.G34W
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SRD5A2

NM_000348.4:p.G34W

Associated Papers

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

Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.

Mehta P et al.

Andrologia, 2021

Structure of human steroid 5α-reductase 2 with the anti-androgen drug finasteride.

Xiao Q et al.

Nature Communications, 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

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

Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency.

Marzuki NS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

Early diagnosis of 5alpha-reductase deficiency in newborns.

Bertelloni S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2007

Molecular characterization of 6 unrelated Italian patients with 5alpha-reductase type 2 deficiency.

Baldinotti F et al.

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."