@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:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_head { this: np:hasAssertion dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_assertion; np:hasProvenance dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_provenance; np:hasPublicationInfo dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_publicationInfo; a np:Nanopublication . dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_assertion a np:Assertion . dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_provenance a np:Provenance . dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_publicationInfo a np:PublicationInfo . } dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_assertion { miriam-gene:112476 a ncit:C16612 . lld:C0036572 a ncit:C7057 . dgn-gda:DGN1dd9c284a4c9fa8345225eeb3502fa2e sio:SIO_000628 miriam-gene:112476, lld:C0036572; a sio:SIO_001121 . } dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_provenance { dgn-np:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_assertion dcterms:description "[This case indicates that the phenotypic spectrum of infantile seizures or epilepsy with PRRT2-related pathology may be larger than previously expected, and that genetic investigation of the effect of PRRT2 mutations on idiopathic seizures or epilepsy in childhood may help elucidate the pathological backgrounds of benign childhood epilepsy.]. 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:23768507; 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:NP1086050.RAJrEKXMXQUJEQH58P4eqdjcrCQVpAIOftuBVJ8TEZVOY130_publicationInfo { this: dcterms:created "2016-05-13T12:49:58+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" . }