Varaico: Literature-Extracted Genetic Variants

Gene:KISS1R
Variant:p.P320L
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KISS1R

NM_032551.5:p.P320L

Associated Papers

Computational Analysis of Missense Variants of G Protein-Coupled Receptors Involved in the Neuroendocrine Regulation of Reproduction.

Min L et al.

Neuroendocrinology, 2016

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

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

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

Molecular genetics of isolated hypogonadotropic hypogonadism and Kallmann syndrome.

Karges B et al.

Endocrine Development, 2005

Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism.

Ulloa-Aguirre A et al.

Human Reproduction Update, 0

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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."