Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.F219fs
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SRD5A2

NM_000348.4:p.F219fs

Associated Papers

Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.

Chen H et al.

Biology of Sex Differences, 2024

Exome sequencing identified compound heterozygous mutations in the SRD5A2 gene in a case of 46,XY ambiguous genitalia.

Mehta P et al.

Andrologia, 2021

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

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Fan Y et al.

Scientific Reports, 2017

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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."