@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:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_head { this: np:hasAssertion dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_assertion; np:hasProvenance dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_provenance; np:hasPublicationInfo dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_publicationInfo; a np:Nanopublication . dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_assertion a np:Assertion . dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_provenance a np:Provenance . dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_publicationInfo a np:PublicationInfo . } dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_assertion { miriam-gene:54982 a ncit:C16612 . lld:C0751778 a ncit:C7057 . dgn-gda:DGN8de261b1381a4eb2722db4a71f048e9d sio:SIO_000628 miriam-gene:54982, lld:C0751778; a sio:SIO_001121 . } dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_provenance { dgn-np:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_assertion dcterms:description "[Mutations in CLN6 were recently identified in recessive Kufs disease presenting as progressive myoclonus epilepsy (Type A), whereas the molecular basis of cases presenting with dementia and motor features (Type B) is unknown.]. 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:23297359; prov:wasDerivedFrom dgn-void:befree-20140225; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP625571.RAGkmlP7Iv-wuTlG_6LSvOGw0CkThmYawfc-gnw0VyXGE130_publicationInfo { this: dcterms:created "2014-10-02T12:38:17+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetrdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v2.1.0.0" . dgn-void:disgenetrdf pav:version "v2.1.0" . }