Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.F309del1
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GNRHR

NM_000406.3:p.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

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."