Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.S346C
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FGFR1

NM_023110.3:p.S346C

Associated Papers

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

Balasubramanian R et al.

Neuroendocrinology, 2010

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism.

Bianco SD et al.

Nature Reviews. Endocrinology, 2009

Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.

Kim SH et al.

Journal of Neuroendocrinology, 2008

Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis.

Dodé C et al.

Human Mutation, 2007

Genetic insights into human isolated gonadotropin deficiency.

Trarbach EB et al.

Pituitary, 2007

Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes.

Pitteloud N et al.

Molecular and Cellular Endocrinology, 2006

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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."