Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.L113V
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SRD5A2

NM_000348.4:p.L113V

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

The genetic factors contributing to hypospadias and their clinical utility in its diagnosis.

Joodi M et al.

Journal of Cellular Physiology, 2019

The association of 5-alpha reductase type 2 (SRD5A2) gene polymorphisms with prostate cancer in a Korean population.

Choi SY et al.

Korean Journal of Urology, 2015

Genetic pathway of external genitalia formation and molecular etiology of hypospadias.

Kojima Y et al.

Journal of Pediatric Urology, 2010

5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias.

Silver RI et al.

The Journal of Urology, 1999

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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."