Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R241W
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NR5A1

NM_004959.5:p.R241W

Associated Papers

Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.

Fouatih K et al.

Endocrine Connections, 2025

Population-Based Study of Rare Coding Variants in NR5A1/SF-1.

Kouri C et al.

Journal of the Endocrine Society, 2024

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

Whole-exome sequencing study of hypospadias.

Chen Z et al.

Iscience, 2023

[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].

Kalinchenko NY et al.

Problemy Endokrinologii, 2020

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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."