Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.L359_L363del0
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NR5A1

NM_004959.5:p.L359_L363del0

Associated Papers

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

Kumar S et al.

Annales D'endocrinologie, 2025

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Xu Y et al.

Orphanet Journal of Rare Diseases, 2024

PUBERTAL VIRILIZATION IN AN ADOLESCENT WITH 46, XY DISORDER OF SEXUAL DEVELOPMENT: A NOVEL MUTATION IN NR5A1 GENE.

Güneş S et al.

Acta Endocrinologica (bucharest, Romania : 2005), 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."