http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_head http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_provenance http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://identifiers.org/ncbigene/1384 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/C0087012 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/DGN5d2824c001f518d5f92ef10c64de43a5 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1384 http://rdf.disgenet.org/resource/gda/DGN5d2824c001f518d5f92ef10c64de43a5 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0087012 http://rdf.disgenet.org/resource/gda/DGN5d2824c001f518d5f92ef10c64de43a5 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_provenance http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://purl.org/dc/terms/description [(ii) The observation of an expanded spinocerebellar ataxia (SCA)1 allele with an unusual pattern of multiple CAT interruptions showed that cryptic sequence variations are critical not only for sequence length stability but also for the expression of the disease phenotype.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10434311 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/dc/terms/created 2015-08-25T14:40:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP324998.RAj8cWd9WJF5KNSMwRHqD2t4C5abUlsUsK6c5H1Uve0EY http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0