Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.V134G
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GNRHR

NM_000406.3:p.V134G

Associated Papers

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

Fanis P et al.

International Journal of Molecular Sciences, 2023

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL et al.

European Journal of Endocrinology, 2019

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

Deficiency in GnRH receptor trafficking due to a novel homozygous mutation causes idiopathic hypogonadotropic hypogonadism in three prepubertal siblings.

Zhang R et al.

Gene, 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

[GnRH deficiency: new insights from genetics].

Kottler ML et al.

Journal De La Societe De Biologie, 2004

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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."