Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.L117P
Back to variants list

GNRHR

NM_000406.3:p.L117P

Associated Papers

Gonadotropin-Releasing Hormone Receptor (GnRHR) and Hypogonadotropic Hypogonadism.

Fanis P et al.

International Journal of Molecular Sciences, 2023

Restoration of testis function in hypogonadotropic hypogonadal mice harboring a misfolded GnRHR mutant by pharmacoperone drug therapy.

Janovick JA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2013

Mice harboring Gnrhr E90K, a mutation that causes protein misfolding and hypogonadotropic hypogonadism in humans, exhibit testis size reduction and ovulation failure.

Stewart MD et al.

Molecular Endocrinology (baltimore, Md.), 2012

When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).

Gianetti E et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

GnRH receptor and GPR54 inactivation in isolated gonadotropic deficiency.

de Roux N

Best Practice & Research. Clinical Endocrinology & Metabolism, 2006

A novel mouse model of hypogonadotrophic hypogonadism: N-ethyl-N-nitrosourea-induced gonadotropin-releasing hormone receptor gene mutation.

Pask AJ et al.

Molecular Endocrinology (baltimore, Md.), 2005

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."