Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.R80C
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FGFR1

NM_023110.3:p.R80C

Associated Papers

Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations.

Yang YF et al.

Asian Journal of Andrology, 2024

Phenotypic and genotypic landscape of PROKR2 in neuroendocrine disorders.

Martinez-Mayer J et al.

Frontiers in Endocrinology, 2023

Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.

Patil VA et al.

Clinical Endocrinology, 2022

Correlation Analysis of Genotypes and Phenotypes in Chinese Male Pediatric Patients With Congenital Hypogonadotropic Hypogonadism.

Wang Y et al.

Frontiers in Endocrinology, 2022

SOX2 heterozygous mutations cause multiple extraocular phenotypes in boys.

Wang Y et al.

Chinese Medical Journal, 2021

Modeling mutant/wild-type interactions to ascertain pathogenicity of PROKR2 missense variants in patients with isolated GnRH deficiency.

Cox KH et al.

Human Molecular Genetics, 2018

Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations.

Sbai O et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C et al.

Frontiers in Endocrinology, 2013

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.

Martin C et al.

Endocrine Reviews, 2011

Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.

Balasubramanian R et al.

Neuroendocrinology, 2010

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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."