Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.Y283H
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GNRHR

NM_000406.3:p.Y283H

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

GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism.

Gonçalves CI et al.

Endocrine Connections, 2017

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay.

Beneduzzi D et al.

Fertility and Sterility, 2014

Novel mutation in the gonadotropin-releasing hormone receptor (GNRHR) gene in a patient with normosmic isolated hypogonadotropic hypogonadism.

Beneduzzi D et al.

Arquivos Brasileiros De Endocrinologia E Metabologia, 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."