Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.M719R
Back to variants list

FGFR1

NM_023110.3:p.M719R

Associated Papers

Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.

Rajith B et al.

Applied Biochemistry and Biotechnology, 2013

Modulation of Fgfr1a signaling in zebrafish reveals a genetic basis for the aggression-boldness syndrome.

Norton WH et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

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

Kim SH et al.

Journal of Neuroendocrinology, 2008

FGF signaling: its role in bone development and human skeleton diseases.

Su N et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

Molecular pathogenesis of Kallmann's syndrome.

Cadman SM et al.

Hormone Research, 2007

Genetic insights into human isolated gonadotropin deficiency.

Trarbach EB et al.

Pituitary, 2007

Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

Tsai PS et al.

Nature Clinical Practice. Endocrinology & Metabolism, 2006

Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.

de Roux N

Hormone Research, 2005

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C et al.

Nature Genetics, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."