@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_head { this: np:hasAssertion dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion; np:hasProvenance dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_provenance; np:hasPublicationInfo dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_publicationInfo; a np:Nanopublication . dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion a np:Assertion . dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_provenance a np:Provenance . dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_publicationInfo a np:PublicationInfo . } dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion { miriam-gene:23493 a ncit:C16612 . lld:C0010068 a ncit:C7057 . dgn-gda:DGNd1b1415a4d229f4b52ea9144b10e1d63 sio:SIO_000628 miriam-gene:23493, lld:C0010068; a sio:SIO_001121 . } dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_provenance { dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_assertion dcterms:description "[To clarify the role of HEY2 in human CHD and AGS, we screened by direct sequencing 23 children with CHD and 38 patients diagnosed with AGS, which lack mutations in the JAG1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:15389319; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP503753.RACrmdlzJfbi325zi07lP5oCaqrNzPMpipOqVWmotnwQw130_publicationInfo { this: dcterms:created "2014-10-02T12:37:00+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }