@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:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_head { this: np:hasAssertion dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_assertion; np:hasProvenance dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_provenance; np:hasPublicationInfo dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_publicationInfo; a np:Nanopublication . dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_assertion a np:Assertion . dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_provenance a np:Provenance . dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_publicationInfo a np:PublicationInfo . } dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_assertion { miriam-gene:6323 a ncit:C16612 . lld:C0014544 a ncit:C7057 . dgn-gda:DGN6d9a593824f4f96417696cad0559613e sio:SIO_000628 miriam-gene:6323, lld:C0014544; a sio:SIO_001121 . } dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_provenance { dgn-np:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_assertion dcterms:description "[These channelopathies include genes encoding voltage-gated channels specific for sodium (SCN1A, SCN2A, SCN1B, SCN9A) and potassium (KCNQ2, KCNQ3) which account for a variety of epilepsy phenotypes ranging from mild, such as Benign familial neonatal seizures (BFNS) to severe, such as Dravet syndrome (severe myoclonic epilepsy of infancy, SMEI) and the rare and unusual syndrome paroxysmal extreme pain disorder (PEPD).]. 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:17049761; 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:NP575055.RALJUpEBJClBUN6V2svE8sFaqfLdiM8UXD-DEjLq2wNeM130_publicationInfo { this: dcterms:created "2016-05-13T12:46:05+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" . }