Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.F219fs
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SRD5A2

NM_000348.4:p.F219fs

Associated Papers

The genetic spectrum of a Chinese series of patients with 46, XY disorders of the sex development.

Zhang W et al.

Andrology, 2024

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

Whole-exome sequencing study of hypospadias.

Chen Z et al.

Iscience, 2023

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.

Seo J et al.

International Journal of Molecular Sciences, 2023

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

Characterization With Gene Mutations in Han Chinese Patients With Hypospadias and Function Analysis of a Novel AR Genevariant.

Chen L et al.

Frontiers in Genetics, 2021

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

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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."