Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.A217E
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SRD5A2

NM_000348.4:p.A217E

Associated Papers

Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.

Tang Y et al.

Endocrine Connections, 2023

Longitudinal clinical course in patients with 5α-reductase type 2 deficiency treated with testosterone and dihydrotestosterone during infancy and puberty.

Ariyasu D et al.

Endocrine Journal, 2023

Genome analyses and androgen quantification for an infant with 5α-reductase type 2 deficiency.

Akiba K et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

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

New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.

Xu Y et al.

European Journal of Endocrinology, 2019

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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."