Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP399536.RAT-P_I7NUi6v9nvStQ6-IfJ8bgW-Z_SNpazF4zvvpr0w#assertion> ?p ?o ?g. }
Showing items 1 to 5 of
5
with 100 items per page.
- 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.