Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.M323I
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FGFR1

NM_023110.3:p.M323I

Associated Papers

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

G protein-coupled receptors involved in GnRH regulation: molecular insights from human disease.

Noel SD et al.

Molecular and Cellular Endocrinology, 2011

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.

Abreu AP et al.

Neuroendocrinology, 2010

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

PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity.

Monnier C et al.

Human Molecular Genetics, 2009

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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."