Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.G246D
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NR5A1

NM_004959.5:p.G246D

Associated Papers

Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.

Jing H et al.

Clinical Genetics, 2026

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.

Kulkarni V et al.

Molecular Human Reproduction, 2023

Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes.

Wang H et al.

Human Genetics, 2018

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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."