Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.E237G
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NR5A1

NM_004959.5:p.E237G

Associated Papers

Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.

Cheng Y et al.

Orphanet Journal of Rare Diseases, 2021

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."