Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.R281C
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NR5A1

NM_004959.5:p.R281C

Associated Papers

Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.

Cools M et al.

European Journal of Endocrinology, 2024

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )
Supplement: mmc1.pdf

Whole-exome sequencing study of hypospadias.

Chen Z et al.

Iscience, 2023

Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.

An M et al.

Journal of Assisted Reproduction and Genetics, 2021

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD.

Buonocore F et al.

Journal of the Endocrine Society, 2019

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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."