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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 15282208 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.