Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.Y242D
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SRD5A2

NM_000348.4:p.Y242D

Associated Papers

Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.

Rafigh M et al.

Fetal and Pediatric Pathology, 2022

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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."