Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_assertion description "[The most common genetic mutations identified in syndromic craniosynostosis involve the fibroblast growth factor receptor (FGFR) family with other mutations occurring in genes for transcription factors TWIST, MSX2, and GLI3, and other proteins EFNB1, RAB23, RECQL4, and POR, presumed to be involved either upstream or downstream of the FGFR signaling pathway.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_assertion evidence source_evidence_literature NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_assertion SIO_000772 21082653 NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_assertion wasDerivedFrom befree-20140225 NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_assertion wasGeneratedBy ECO_0000203 NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.
- befree-20140225 importedOn "2014-02-25" NP643530.RAEP4Miq71Cn8DbWFyaDk9De7KUDkrnY7GkH5AQ1QRl30130_provenance.