Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.A49D
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SRD5A2

NM_000348.4:p.A49D

Associated Papers

A Novel SRD5A2 Loss-of-Function Variant in a Chinese Child with 5α-Reductase type 2 Deficiency.

Zhou P et al.

Journal of Clinical Research in Pediatric Endocrinology, 2025

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

Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis.

Kocova M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

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