Varaico: Literature-Extracted Genetic Variants

Gene:PRH2
Variant:p.G89R
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PRH2

NM_001110213.1:p.G89R

Associated Papers

Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.

Arya S et al.

European Journal of Endocrinology, 2020

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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."