@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:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_head { this: np:hasAssertion dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_assertion; np:hasProvenance dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_provenance; np:hasPublicationInfo dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_publicationInfo; a np:Nanopublication . dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_assertion a np:Assertion . dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_provenance a np:Provenance . dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_publicationInfo a np:PublicationInfo . } dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_assertion { miriam-gene:3708 a ncit:C16612 . lld:C0004134 a ncit:C7057 . dgn-gda:DGN06f44a4c167e609644cb27056714516d sio:SIO_000628 miriam-gene:3708, lld:C0004134; a sio:SIO_001121 . } dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_provenance { dgn-np:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_assertion dcterms:description "[We sequenced the entire coding region and flanking regions of ITPR1 in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands.]. 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:20437544; 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:NP809750.RAM_s80k4J-grmHY2tfBVo7hQQcriUFgiEM-MUSo1ti24130_publicationInfo { this: dcterms:created "2016-05-13T12:47:52+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" . }