Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.A82S
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NR5A1

NM_004959.5:p.A82S

Associated Papers

Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.

Lu L et al.

Frontiers in Pediatrics, 2022

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing.

Yu B et al.

Orphanet Journal of Rare Diseases, 2021

Prevalence of gene mutations in a Chinese 46,XY disorders of sex development cohort detected by targeted next-generation sequencing.

Yu BQ et al.

Asian Journal of Andrology, 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."