Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.F194L
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SRD5A2

NM_000348.4:p.F194L

Associated Papers

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

Mehta P et al.

Andrologia, 2021

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

Androgen metabolic genes in prostate cancer predisposition and progression.

Makridakis NM et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2005

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

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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."