Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.Q460L
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NR5A1

NM_004959.5:p.Q460L

Associated Papers

Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.

Naamneh Elzenaty R et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

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

Prevalence of endocrine and genetic abnormalities in boys evaluated systematically for a disorder of sex development.

Nixon R et al.

Human Reproduction (oxford, England), 2017

Targeted next-generation sequencing identification of mutations in patients with disorders of sex development.

Dong Y et al.

Bmc Medical Genetics, 2016

26980296 (PubMed )
Supplement: 12881_2016_286_MOESM6_ESM.xlsx › Additional_file_6
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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."