@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:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_head { this: np:hasAssertion dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion; np:hasProvenance dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_provenance; np:hasPublicationInfo dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_publicationInfo; a np:Nanopublication . dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion a np:Assertion . dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_provenance a np:Provenance . dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_publicationInfo a np:PublicationInfo . } dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion { miriam-gene:6315 a ncit:C16612 . lld:C0004134 a ncit:C7057 . dgn-gda:DGN9ce26ed21652a376ac5aa1a8316ffe6f sio:SIO_000628 miriam-gene:6315, lld:C0004134; a sio:SIO_001121 . } dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_provenance { dgn-np:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_assertion dcterms:description "[Our finding that SCA8 expansions on three independently arising haplotypes are found among patients with ataxia and cosegregate with ataxia when multiple family members are affected further supports the direct role of the CTG expansion in disease pathogenesis.]. 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:15152344; 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:NP681960.RAtvc69HQnNaVBU3UI_flxZJzEaLVRu9ZRNsB8OEiL-W8130_publicationInfo { this: dcterms:created "2015-08-25T14:44:31+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" . }