@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:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_head { this: np:hasAssertion dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_assertion; np:hasProvenance dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_provenance; np:hasPublicationInfo dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_publicationInfo; a np:Nanopublication . dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_assertion a np:Assertion . dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_provenance a np:Provenance . dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_publicationInfo a np:PublicationInfo . } dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_assertion { miriam-gene:889 a ncit:C16612 . lld:C2919945 a ncit:C7057 . dgn-gda:DGNe138016471862de2d5f03d3c743c1be6 sio:SIO_000628 miriam-gene:889, lld:C2919945; a sio:SIO_001122 . } dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_provenance { dgn-np:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_assertion dcterms:description "[All subjects were carriers of the founder Q455X 'Common Hispanic Mutation' (CHM) in the KRIT1 gene, and had a clinical diagnosis of CCM or had an affected first- or second-degree relative with CCM.]. 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:24401931; prov:wasDerivedFrom dgn-void:befree-20150227; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP287543.RA6Vo3rN8WlAOcX7rEX8vI_Lgg_EQkD1h4uDyCIvteGdg130_publicationInfo { this: dcterms:created "2015-08-25T14:40:24+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }