Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.G203R
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SRD5A2

NM_000348.4:p.G203R

Associated Papers

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.

Chávez B et al.

Molecular Genetics & Genomic Medicine, 2014

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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."