Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_assertion wasGeneratedBy ECO_0000203 NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_assertion wasDerivedFrom befree-20140225 NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_assertion SIO_000772 19243295 NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_assertion evidence source_evidence_literature NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_assertion description "[The majority of the mutations identified are identical to germline mutations in FGFR2 and FGFR3 that cause craniosynostosis and hypochondroplasia syndromes and result in both ligand-independent and ligand-dependent receptor activation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.
- befree-20140225 importedOn "2014-02-25" NP706561.RAjLh8I_Btov0Fk9RTWDQF8XBQFzr70uFf1I9vWVN7ONE130_provenance.