Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.C55G
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NR5A1

NM_004959.5:p.C55G

Associated Papers

Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.

Poyrazoglu S et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026

46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.

Kumar S et al.

Annales D'endocrinologie, 2025

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