Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.P282R
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GNRHR

NM_000406.3:p.P282R

Associated Papers

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

Fanis P et al.

International Journal of Molecular Sciences, 2023

Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature.

Cioppi F et al.

Andrology, 2019

A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred.

Correa-Silva SR et al.

Journal of Neuroendocrinology, 2018

Congenital hypogonadotropic hypogonadism due to GnRH receptor mutations in three brothers reveal sites affecting conformation and coupling.

Tello JA et al.

Plos One, 2012

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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."