@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:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_head { this: np:hasAssertion dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_assertion; np:hasProvenance dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_provenance; np:hasPublicationInfo dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_publicationInfo; a np:Nanopublication . dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_assertion a np:Assertion . dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_provenance a np:Provenance . dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_publicationInfo a np:PublicationInfo . } dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_assertion { miriam-gene:57526 a ncit:C16612 . lld:C0863106 a ncit:C7057 . dgn-gda:DGN4c52d4e72cae3b00db5cf9edd60c5006 sio:SIO_000628 miriam-gene:57526, lld:C0863106; a sio:SIO_001121 . } dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_provenance { dgn-np:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_assertion dcterms:description "[Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression.]. 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:19214208; 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:NP720311.RAHXyY-u72iULJ17w2InuvllNSqC6FpV79RsbLvSYKIbc130_publicationInfo { this: dcterms:created "2016-05-13T12:47:11+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" . }