@prefix this: . @prefix sub: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-gda: . @prefix dgn-void: . sub:head { this: np:hasAssertion sub:assertion ; np:hasProvenance sub:provenance ; np:hasPublicationInfo sub:publicationInfo ; a np:Nanopublication . } sub:assertion { dgn-gda:DGN608a89f4d701a51245ede96b0dd04442 sio:SIO_000628 miriam-gene:6513 , lld:C1842534 ; a sio:SIO_001121 . } sub:provenance { sub:assertion dcterms:description "[We summarize recently discovered genes and loci, including the 1) detection of two primary dystonia genes (DYT6, DYT16), 2) identification of the DYT17 locus, 3) association of a dystonia/dyskinesia phenotype with a gene previously linked to GLUT1 (glucose transporter of the blood-brain barrier) deficiency syndrome (DYT18), 4) designation of paroxysmal kinesigenic and nonkinesigenic dyskinesia as DYT19 and DYT20, and 5) redefinition of DYT14 as DYT5.]. 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:20425035 ; prov:wasDerivedFrom dgn-void:BEFREE ; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 . } sub:publicationInfo { this: dcterms:created "2017-10-17T13:16:13+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 "v5.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v5.0.0" . }