Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP399806.RAKwRdsU5ULcuhR0P6jtsj0dwqpy4dT2VtMwdJj8hamSs#assertion> ?p ?o ?g. }
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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 10394936 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.