@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:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_head { this: np:hasAssertion dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_assertion; np:hasProvenance dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_provenance; np:hasPublicationInfo dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_publicationInfo; a np:Nanopublication . dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_assertion a np:Assertion . dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_provenance a np:Provenance . dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_publicationInfo a np:PublicationInfo . } dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_assertion { miriam-gene:1861 a ncit:C16612 . lld:C0752207 a ncit:C7057 . dgn-gda:DGNefdfe7431ab5125dd1d4434848b0aa63 sio:SIO_000628 miriam-gene:1861, lld:C0752207; a sio:SIO_001121 . } dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_provenance { dgn-np:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_assertion dcterms:description "[The aim of the study was: 1) to evaluate the prevalence of the DYT1 mutation in a population of Polish patients with early-onset generalized dystonia and with other forms of familial dystonia, 2) to evaluate the frequency of the DYT1 mutation in patients with writer's cramp, 3) to characterize the phenotype of the DYT1 mutation in the Polish population, and 4) to define the group of patients in whom genetic testing is recommended.]. 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:18224570; 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:NP652113.RAfTxPDV7A7IhZDxGOyLXgZ-e_vYea2fFfpf9jp0Pgnlg130_publicationInfo { this: dcterms:created "2016-05-13T12:46:41+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" . }