Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.G97D
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FGFR1

NM_023110.3:p.G97D

Associated Papers

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

Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.

Wilkie AO

Cytokine & Growth Factor Reviews, 2005

Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).

Albuisson J et al.

Human Mutation, 2005

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

Kallmann syndrome: fibroblast growth factor signaling insufficiency?

Dodé C et al.

Journal of Molecular Medicine (berlin, Germany), 2004

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

Dodé C et al.

Nature Genetics, 2003

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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."