Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.G123R
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SRD5A2

NM_000348.4:p.G123R

Associated Papers

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

Batista RL et al.

The Application of Clinical Genetics, 2020

The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype.

Simsek E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012

A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.

Bahceci M et al.

Urology, 2005

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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."