Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.F272S
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GNRHR

NM_000406.3:p.F272S

Associated Papers

The kisspeptin signaling pathway and its role in human isolated GnRH deficiency.

Wahab F et al.

Molecular and Cellular Endocrinology, 2011

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family.

Nimri R et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

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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."