@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:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_head { this: np:hasAssertion dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_assertion; np:hasProvenance dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_provenance; np:hasPublicationInfo dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_publicationInfo; a np:Nanopublication . dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_assertion a np:Assertion . dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_provenance a np:Provenance . dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_publicationInfo a np:PublicationInfo . } dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_assertion { miriam-gene:6323 a ncit:C16612 . lld:C0751122 a ncit:C7057 . dgn-gda:DGN1fcae9bafef0c653600e7421131dff19 sio:SIO_000628 miriam-gene:6323, lld:C0751122; a sio:SIO_001121 . } dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_provenance { dgn-np:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_assertion dcterms:description "[More than 200 mutations in the Nav1.1 alpha subtype have been linked to inherited epilepsy syndromes, ranging in severity from the comparatively mild disorder Generalized Epilepsy with Febrile Seizures Plus to the epileptic encephalopathy Severe Myoclonic Epilepsy of Infancy.]. 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:18342948; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP660846.RAIFGB7jhXCEKjgR50UVpuEjjtysbZ8vJvo0iXIXl7ob0130_publicationInfo { this: dcterms:created "2016-05-13T12:46:45+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 "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }