http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_head http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://identifiers.org/ncbigene/6311 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0752121 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN1c4e581a5bb3159e81858a8317230d43 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6311 http://rdf.disgenet.org/resource/gda/DGN1c4e581a5bb3159e81858a8317230d43 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0752121 http://rdf.disgenet.org/resource/gda/DGN1c4e581a5bb3159e81858a8317230d43 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_provenance http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9549522 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/dc/terms/created 2016-05-13T12:52:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1393297.RALnKCIBWNp2CC7YlVgnhj59MUW1-jfhSiZNbfoQl0nWA http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0