Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.S282C
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FGFR2

NM_000141.5:p.S282C

Associated Papers

Characterization of driver mutations in Chinese non-small cell lung cancer patients using a novel targeted sequencing panel.

Zhao J et al.

Journal of Thoracic Disease, 2022

Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.

Ea C et al.

Bone Reports, 2022

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

FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

Hibberd CE et al.

American Journal of Medical Genetics. Part A, 2016

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.

Barnett CP et al.

Human Mutation, 2016

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."