Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.C283F
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NR5A1

NM_004959.5:p.C283F

Associated Papers

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

Fouatih K et al.

Endocrine Connections, 2025

Understanding the Mechanisms of Diminished Ovarian Reserve: Insights from Genetic Variants and Regulatory Factors.

Zhu Q et al.

Reproductive Sciences (thousand Oaks, Calif.), 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

In cases of familial primary ovarian insufficiency and disorders of gonadal development, consider NR5A1/SF-1 sequence variants.

Bertrand-Delepine J et al.

Reproductive Biomedicine Online, 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."