Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.K296E
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FGFR2

NM_000141.5:p.K296E

Associated Papers

Zebrafish and medaka as models for biomedical research of bone diseases.

Lleras-Forero L et al.

Developmental Biology, 2020

Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.

Lin M et al.

Molecular Genetics & Genomic Medicine, 2019

31318164 (PubMed )
Supplement: MGG3-7-e843-s002.doc

A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.

Suh YJ et al.

Journal of Cellular Biochemistry, 2014

Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis).

Mulliken JB et al.

Plastic and Reconstructive Surgery, 2004

A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

Steinberger D et al.

Journal of Medical Genetics, 1997

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

Craniosynostosis: genes and mechanisms.

Wilkie AO

Human Molecular Genetics, 1997

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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."