Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.F252insFs
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SRD5A2

NM_000348.4:p.F252insFs

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

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

Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.

Shabir I et al.

Andrology, 2015

Novel nucleotide insertions in two unrelated Indian patients with 5α reductase 2 deficiency leading to premature termination of SRD5A2 enzyme.

Shabir I et al.

Steroids, 2013

A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias.

Zhang M et al.

Hormone Research in Paediatrics, 2011

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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."