Varaico: Literature-Extracted Genetic Variants

Gene:FGFR2
Variant:p.T358R
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FGFR2

NM_000141.5:p.T358R

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

Recent advances in molecular analysis of skeletal dysplasia.

Ozono K

Acta Paediatrica Japonica : Overseas Edition, 1997

No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.

Ma HW et al.

Human Genetics, 1995

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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."