http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#head http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#provenance http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://rdf.disgenet.org/resource/gda/DGN67654a49c73a9fc7f4ea1f88cb0d01ed http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6310 http://rdf.disgenet.org/resource/gda/DGN67654a49c73a9fc7f4ea1f88cb0d01ed http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004134 http://rdf.disgenet.org/resource/gda/DGN67654a49c73a9fc7f4ea1f88cb0d01ed http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#provenance http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://purl.org/dc/terms/description [By sequencing cloned normal and expanded SCA1 alleles taken from our cohort of ataxia patients we have determined sequence variations not detected by allele sizing and observed for the first time that repeat instability can occur even in the presence of CAG interruptions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23935513 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/dc/terms/created 2017-10-17T13:16:03+02:00 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP922012.RAtqZLgwWYZpJUdFhYRIUAnBXyRF1hvl1z9hagDQgyJ2I http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0