@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:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_head { this: np:hasAssertion dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_assertion; np:hasProvenance dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_provenance; np:hasPublicationInfo dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_publicationInfo; a np:Nanopublication . dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_assertion a np:Assertion . dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_provenance a np:Provenance . dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_publicationInfo a np:PublicationInfo . } dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_assertion { miriam-gene:1080 a ncit:C16612 . lld:C0021831 a ncit:C7057 . dgn-gda:DGN78739f9665115f167f00ed5c7c19a34c sio:SIO_000628 miriam-gene:1080, lld:C0021831; a sio:SIO_001122 . } dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_provenance { dgn-np:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_assertion dcterms:description "[p.W493R-SCNN1A was detected in three female carriers of F508del CFTR who did not show any symptoms of respiratory or intestinal disease that could be interpreted as the manifestation of CF or CFTR-related disorder.]. 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:21917531; 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:NP311230.RAjl87Z-TQyg5rcKDPx2e8nIAJgX6m2z-yHEJCvVE2OGI130_publicationInfo { this: dcterms:created "2015-08-25T14:40:39+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" . }