@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:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_head { this: np:hasAssertion dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_assertion; np:hasProvenance dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_provenance; np:hasPublicationInfo dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_publicationInfo; a np:Nanopublication . dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_assertion a np:Assertion . dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_provenance a np:Provenance . dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_publicationInfo a np:PublicationInfo . } dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_assertion { miriam-gene:6792 a ncit:C16612 . lld:C2931919 a ncit:C7057 . dgn-gda:DGN4f9b0eb6ce9bcbe8300ff8ca0d7d8cf7 sio:SIO_000628 miriam-gene:6792, lld:C2931919; a sio:SIO_001122 . } dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_provenance { dgn-np:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_assertion dcterms:description "[Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT)-like features.]. 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:22921766; 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:NP1007930.RAJTVXu1uY80bsdAJZIaevABpM8CxlE4_GaDIF6FsS14g130_publicationInfo { this: dcterms:created "2016-05-13T12:49:22+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" . }