Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.G22C
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NR5A1

NM_004959.5:p.G22C

Associated Papers

Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.

Abseyi SN et al.

Journal of Endocrinological Investigation, 2025

Phenotype and genetic characteristics in 20 Chinese patients with 46,XY disorders of sex development.

Zheng GY et al.

Journal of Endocrinological Investigation, 2023

A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.

Zhang D et al.

Bmc Pediatrics, 2023

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