Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.Y340N
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FGFR2

NM_000141.5:p.Y340N

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

Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.

Nur BG et al.

Pediatric Neurology, 2014

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

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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."