Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Y409*
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NR5A1

NM_004959.5:p.Y409*

Associated Papers

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

Fouatih K et al.

Endocrine Connections, 2025

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

Kumar S et al.

Annales D'endocrinologie, 2025

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

Mutation update for the NR5A1 gene involved in DSD and infertility.

Fabbri-Scallet H et al.

Human Mutation, 2020

SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.

Colson C et al.

Clinical Genetics, 2017

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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."