@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:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_head { this: np:hasAssertion dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_assertion; np:hasProvenance dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_provenance; np:hasPublicationInfo dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_publicationInfo; a np:Nanopublication . dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_assertion a np:Assertion . dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_provenance a np:Provenance . dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_publicationInfo a np:PublicationInfo . } dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_assertion { miriam-gene:778 a ncit:C16612 . lld:C0035334 a ncit:C7057 . dgn-gda:DGNa5be885383de7a7f9998a7240e878ccb sio:SIO_000628 miriam-gene:778, lld:C0035334; a sio:SIO_001121 . } dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_provenance { dgn-np:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_assertion dcterms:description "[Originally identified in 1997 from the human genome project, several reports have since been published describing mutations in the CACNA1F gene encoding Ca(v)1.4 channels, and implicated these mutations in human disorders such as X-linked cone rod dystrophy (CORDX3) and incomplete X-linked congenital stationary night blindness type 2 (CSNB2).]. 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:19151588; 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:NP277416.RAv2mso04y_AamVhYACx4gqs4iG6GVvi7nWAxTWe5qpLs130_publicationInfo { this: dcterms:created "2015-08-25T14:40:18+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" . }