Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.R145L
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SRD5A2

NM_000348.4:p.R145L

Associated Papers

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

Batista RL et al.

The Application of Clinical Genetics, 2020

Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.

Cheng J et al.

Clinical Endocrinology, 2015

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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."