@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:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_head { this: np:hasAssertion dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_assertion; np:hasProvenance dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_provenance; np:hasPublicationInfo dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_publicationInfo; a np:Nanopublication . dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_assertion a np:Assertion . dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_provenance a np:Provenance . dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_publicationInfo a np:PublicationInfo . } dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_assertion { miriam-gene:6315 a ncit:C16612 . lld:C0004134 a ncit:C7057 . dgn-gda:DGN4dbe684f77910c3f79a74f351823c983 sio:SIO_000628 miriam-gene:6315, lld:C0004134; a sio:SIO_001121 . } dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_provenance { dgn-np:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_assertion dcterms:description "[However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, 2, 3, 6, 7, 17, and DRPLA), although of the remainder only SCAs 8, 10, 12, 14, 15/16, and 31 are frequent enough that the described phenotype is probably representative.]. 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:25192506; 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:NP1217268.RApf1StHLSuV56XmFPVcg1ydAU0maEh9omeX8NpM8jz3w130_publicationInfo { this: dcterms:created "2016-05-13T12:50:57+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" . }