Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.V124D
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SRD5A2

NM_000348.4:p.V124D

Associated Papers

Clinical characteristics and genotype-phenotype correlations of 130 Chinese children in a high-homogeneity single-center cohort with 5α-reductase 2 deficiency.

Fan L et al.

Molecular Genetics & Genomic Medicine, 2020

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

Batista RL et al.

The Application of Clinical Genetics, 2020

New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.

Gui B et al.

Journal of Medical Genetics, 2019

[Clinical phenotype and gene analysis of 86 cases of 5 alpha reductase deficiency].

Song YN et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2019

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.

Bertelloni S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016

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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."