Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.*255S
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SRD5A2

NM_000348.4:p.*255S

Associated Papers

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

Bertelloni S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

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

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.

Maimoun L et al.

International Journal of Andrology, 2010

SRD5A2 gene analysis in an Italian population of under-masculinized 46,XY subjects.

Nicoletti A et al.

Clinical Endocrinology, 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."