Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.A217_F218insC
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SRD5A2

NM_000348.4:p.A217_F218insC

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, 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

Diagnosis of 5alpha-reductase type 2 deficiency: contribution of anti-Müllerian hormone evaluation.

Stuchi-Perez EG et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2005

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

Hackel C et al.

Journal of Molecular Medicine (berlin, Germany), 2005

[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].

Hackel C et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 2005

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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."