Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.S430I
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NR5A1

NM_004959.5:p.S430I

Associated Papers

Clinical spectrum and molecular basis in 19 Chinese patients with 46, XY disorder of sexual development caused by NR5A1 mutations.

Xu Y et al.

Orphanet Journal of Rare Diseases, 2024

Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.

Jiali C et al.

Frontiers in Genetics, 2024

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

Wang H et al.

Human Genetics, 2018

Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.

Song Y et al.

Frontiers in Pharmacology, 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."