@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:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_head { this: np:hasAssertion dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_assertion; np:hasProvenance dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_provenance; np:hasPublicationInfo dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_publicationInfo; a np:Nanopublication . dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_assertion a np:Assertion . dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_provenance a np:Provenance . dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_publicationInfo a np:PublicationInfo . } dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_assertion { miriam-gene:4758 a ncit:C16612 . lld:C0751354 a ncit:C7057 . dgn-gda:DGN9a2ed71be06a41db334c5a01c8d8ae72 sio:SIO_000628 miriam-gene:4758, lld:C0751354; a sio:SIO_001121 . } dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_provenance { dgn-np:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_assertion dcterms:description "[Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings.]. 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:24808020; 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:NP587506.RAvWlEGAW8S1TQWowBHUJeXhkn2uaAR55ZcnMluXpoSBE130_publicationInfo { this: dcterms:created "2015-08-25T14:43:31+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" . }