Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.K313_A314Splc
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FGFR2

NM_000141.5:p.K313_A314Splc

Associated Papers

FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants.

Apra C et al.

Clinical Genetics, 2016

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Wilkie AO et al.

Pediatrics, 2010

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

Kan SH et al.

American Journal of Human Genetics, 2002

Feeding, Communication, Hydrocephalus, and Intracranial Hypertension in Patients With Severe FGFR2-Associated Pfeiffer Syndrome.

Kilcoyne S et al.

The Journal of Craniofacial Surgery, 0

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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."