Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.G35G
Back to variants list

NR5A1

NM_004959.5:p.G35G

Associated Papers

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.

Pedace L et al.

American Journal of Medical Genetics. Part A, 2014

NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.

Voican A et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

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."