@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:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_head { this: np:hasAssertion dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_assertion; np:hasProvenance dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_provenance; np:hasPublicationInfo dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_publicationInfo; a np:Nanopublication . dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_assertion a np:Assertion . dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_provenance a np:Provenance . dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_publicationInfo a np:PublicationInfo . } dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_assertion { miriam-gene:56652 a ncit:C16612 . lld:C0004134 a ncit:C7057 . dgn-gda:DGN7c2f84e1fbf8f513f2e9182bba961cfe sio:SIO_000628 miriam-gene:56652, lld:C0004134; a sio:SIO_001121 . } dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_provenance { dgn-np:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_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-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:NP444829.RAWcyFDtSxZV7iqT19GGHCPLWK3AwgFbxx-a0LBhnmh-k130_publicationInfo { this: dcterms:created "2016-05-13T12:45:06+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" . }