Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.L73fs
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SRD5A2

NM_000348.4:p.L73fs

Associated Papers

In vitro functional study of fifteen SRD5A2 variants found in Chinese patients and the relation between the SRD5A2 genotypes and phenotypes.

Zhang W et al.

The Journal of Steroid Biochemistry and Molecular Biology, 2023

Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.

Batista RL et al.

The Application of Clinical Genetics, 2020

Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias.

Yuan S et al.

Steroids, 2017

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