Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.S267F
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FGFR2

NM_000141.5:p.S267F

Associated Papers

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

Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.

Gerber TS et al.

Endocrine Connections, 2018

29133385 (PubMed )
Supplement: ec-7-47-t001.pdf

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Lajeunie E et al.

European Journal of Human Genetics : Ejhg, 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."