Varaico: Literature-Extracted Genetic Variants

Gene:SRD5A2
Variant:p.F219S
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SRD5A2

NM_000348.4:p.F219S

Associated Papers

Molecular Characterization of Steroid 5 Alpha-Reductase 2 (SRD5A2) Gene Variant in Indian Patients with Disorder of Sexual Development.

Kumar A et al.

Archives of Sexual Behavior, 2025

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

37493574 (PubMed )
Supplement: supplementary_table_3.pdf

Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.

Nie M et al.

Molecular Human Reproduction, 2011

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