Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.Q56R
Back to variants list

SRD5A2

NM_000348.4:p.Q56R

Associated Papers

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.

Seo J et al.

International Journal of Molecular Sciences, 2023

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

Crystal structure of steroid reductase SRD5A reveals conserved steroid reduction mechanism.

Han Y et al.

Nature Communications, 2021

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

Xiao Q et al.

Nature Communications, 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 Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.

Andonova S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017

Primary amenorrhea in four adolescents revealed 5α-reductase deficiency confirmed by molecular analysis.

Maimoun L et al.

Fertility and Sterility, 2011

Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.

Maimoun L et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.

Sahu R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.

Can S et al.

The Journal of Clinical Endocrinology and Metabolism, 1998

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

Wigley WC et al.

Biochemistry, 1994

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."