Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.L185_S190delFs
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SRD5A2

NM_000348.4:p.L185_S190delFs

Associated Papers

In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.

Zhang W et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

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

Batista RL et al.

The Application of Clinical Genetics, 2020

Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.

Nie M et al.

Molecular Human Reproduction, 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."