Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.R233Splc
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SRD5A2

NM_000348.4:p.R233Splc

Associated Papers

Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency.

Marzuki NS et al.

International Journal of Endocrinology, 2019

Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency.

Marzuki NS et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010

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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."