Varaico: Literature-Extracted Genetic Variants

Gene:FSHR
Variant:p.Y511C
Back to variants list

FSHR

NM_000145.4:p.Y511C

Associated Papers

NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.

Naamneh Elzenaty R et al.

International Journal of Molecular Sciences, 2024

39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.

Kouri C et al.

Ebiomedicine, 2024

38168586 (PubMed )
Supplement: mmc1.pdf

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

Camats N et al.

European Journal of Human Genetics : Ejhg, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."