Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.R233Splc
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SRD5A2

NM_000348.4:p.R233Splc

Associated Papers

The Molecular Basis of 5α-Reductase Type 2 Deficiency.

Batista RL et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022

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

Batista RL et al.

The Application of Clinical Genetics, 2020

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population.

Han B et al.

Biomed Research International, 2020

Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.

Zhu H et al.

Clinical Endocrinology, 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."