Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.P30L
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SRD5A2

NM_000348.4:p.P30L

Associated Papers

Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.

Claahsen-van der Grinten HL et al.

Endocrine Reviews, 2022

The Presence of Clitoromegaly in the Nonclassical Form of 21-Hydroxylase Deficiency Could Be Partially Modulated by the CAG Polymorphic Tract of the Androgen Receptor Gene.

Moura-Massari VO et al.

Plos One, 2016

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

Overview of genetic defects in endocrinopathies in the island of Cyprus; evidence of a founder effect.

Shammas C et al.

Genetic Testing and Molecular Biomarkers, 2012

Steroid 5-{alpha}-reductase Type 2 (SRD5a2) gene polymorphisms and risk of prostate cancer: a HuGE review.

Li J et al.

American Journal of Epidemiology, 2010

Pharmacogenetic analysis of human steroid 5 alpha reductase type II: comparison of finasteride and dutasteride.

Makridakis N et al.

Journal of Molecular Endocrinology, 2005

Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.

Makridakis NM et al.

Pharmacogenetics, 2000

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

White PC et al.

Endocrine Reviews, 2000

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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."