@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:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_head { this: np:hasAssertion dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_assertion; np:hasProvenance dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_provenance; np:hasPublicationInfo dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_publicationInfo; a np:Nanopublication . dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_assertion a np:Assertion . dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_provenance a np:Provenance . dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_publicationInfo a np:PublicationInfo . } dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_assertion { miriam-gene:6323 a ncit:C16612 . lld:C0751122 a ncit:C7057 . dgn-gda:DGN954b5c64b101ec488c9e39cf211c0ab3 sio:SIO_000628 miriam-gene:6323, lld:C0751122; a sio:SIO_001121 . } dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_provenance { dgn-np:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_assertion dcterms:description "[This critical review explores recent evidence relating to the pathogenicity of SCN1A mutations in Dravet syndrome and the effect these have on the wider disease phenotype and discusses whether knowledge of specific genotypes can influence clinical practice.]. 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:24836964; 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:NP682542.RAGfWdlSJSNGwvvaiedqw2EmOAG6U6ltdKTnpAuHM0q0w130_publicationInfo { this: dcterms:created "2015-08-25T14:44:31+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" . }