Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.F308_F309del1
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GNRHR

NM_000406.3:p.F308_F309del1

Associated Papers

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Zouaghi Y et al.

Bmc Genomics, 2024

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

Fanis P et al.

International Journal of Molecular Sciences, 2023

GnRH receptor gene mutations in adolescents and young adults presenting with signs of partial gonadotropin deficiency.

Hietamäki J et al.

Plos One, 2017

Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations.

Laitinen EM et al.

Plos One, 2012

The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty.

Vaaralahti K et al.

Fertility and Sterility, 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."