@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:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_head { this: np:hasAssertion dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion; np:hasProvenance dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance; np:hasPublicationInfo dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo; a np:Nanopublication . dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion a np:Assertion . dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance a np:Provenance . dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo a np:PublicationInfo . } dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion { miriam-gene:6311 a ncit:C16612 . lld:C0752121 a ncit:C7057 . dgn-gda:DGN1c4e581a5bb3159e81858a8317230d43 sio:SIO_000628 miriam-gene:6311, lld:C0752121; a sio:SIO_001121 . } dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance { dgn-np:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion dcterms:description "[The spinocerebellar ataxia type 2 (SCA2) is caused by a trinucleotide (CAG) expansion in the coding region of the ataxin 2 gene on chromosome 12q.89 families with autosomal dominant cerebellar ataxia (ADCA) types I, II and III, and 47 isolated cases with idiopathic late onset cerebellar ataxia (ILOCA), were analysed for this mutation.]. 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:9549522; 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:NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo { this: dcterms:created "2016-05-13T12:52:17+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" . }