@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:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_head { this: np:hasAssertion dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_assertion; np:hasProvenance dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_provenance; np:hasPublicationInfo dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_publicationInfo; a np:Nanopublication . dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_assertion a np:Assertion . dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_provenance a np:Provenance . dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_publicationInfo a np:PublicationInfo . } dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_assertion { miriam-gene:773 a ncit:C16612 . lld:C0018790 a ncit:C7057 . dgn-gda:DGN37cdb89d388edb2ebdcc0c79a5103cf9 sio:SIO_000628 miriam-gene:773, lld:C0018790; a sio:SIO_001121 . } dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_provenance { dgn-np:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_assertion dcterms:description "[However, recent advances in the elucidation of SCA pathogenesis provide the opportunity to subclassify the disorders into three discrete groups based on pathogenesis: 1) the polyglutamine disorders, SCAs 1, 2, 3, 7, and 17, which result from proteins with toxic stretches of polyglutamine; 2) the channelopathies, SCA6 and episodic ataxia types 1 and 2 (EA1 and EA2), which result from disruption of calcium or potassium channel function; and 3) the gene expression disorders, SCAs 8, 10, and 12, which result from repeat expansions outside of coding regions that may quantitatively alter gene expression.]. 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:12169226; 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:NP276974.RAmZqIItW3aKL-2nf56x4GOl5f4Ng49aWQjb0VM2ll93w130_publicationInfo { this: dcterms:created "2015-08-25T14:40:18+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" . }