Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance>. }
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- source_evidence_literature type ECO_0000212 NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_assertion description "[HCS is associated with mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the creation of a truncated and stable NOTCH2 protein with enhanced NOTCH2 signaling activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_assertion evidence source_evidence_literature NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_assertion SIO_000772 25491639 NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_assertion wasDerivedFrom befree-2016 NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_assertion wasGeneratedBy ECO_0000203 NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.
- befree-2016 importedOn "2016-02-19" NP1246563.RAQ1PsRBPEvWCItbIxx6mxKvIYDxOQf7oWHpzRUmxTrCY130_provenance.