@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:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_head { this: np:hasAssertion dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_assertion; np:hasProvenance dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_provenance; np:hasPublicationInfo dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_publicationInfo; a np:Nanopublication . dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_assertion a np:Assertion . dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_provenance a np:Provenance . dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_publicationInfo a np:PublicationInfo . } dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_assertion { miriam-gene:7276 a ncit:C16612 . lld:C0032580 a ncit:C7057 . dgn-gda:DGN2e364d3d895f8cdaa74c6d62b6709172 sio:SIO_000628 miriam-gene:7276, lld:C0032580; a sio:SIO_001122 . } dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_provenance { dgn-np:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_assertion dcterms:description "[The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis.]. 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:15523922; 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:NP467320.RAMddjvlkDekqS1nQ8rGsYGJGbDdK1tGbYtAD3mEkMMV8130_publicationInfo { this: dcterms:created "2016-05-13T12:45:16+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" . }