Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Q53L
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NR5A1

NM_004959.5:p.Q53L

Associated Papers

In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.

Shadhin MST et al.

Scientific Reports, 2025

In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.

Ramgir SS et al.

Journal of Obstetrics and Gynaecology of India, 2024

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.

Knower KC et al.

Plos One, 2011

Boys, girls and shuttling of SRY and SOX9.

Sim H et al.

Trends in Endocrinology and Metabolism: Tem, 2008

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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."