Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.L230R
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NR5A1

NM_004959.5:p.L230R

Associated Papers

Pubertal development in 46,XY patients with NR5A1 mutations.

Mönig I et al.

Endocrine, 2022

Mutation update for the NR5A1 gene involved in DSD and infertility.

Fabbri-Scallet H et al.

Human Mutation, 2020

Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.

Werner R et al.

Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015

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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."