Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.V83E
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NR5A1

NM_004959.5:p.V83E

Associated Papers

Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.

Luppino G et al.

Current Issues in Molecular Biology, 2024

NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

Faienza MF et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019

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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."