Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.G183Splc
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SRD5A2

NM_000348.4:p.G183Splc

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

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.

Nixon R et al.

Human Reproduction (oxford, England), 2017

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

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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."