http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_head http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_assertion http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_provenance http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_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/C0018790 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/DGN043d199545a6c3f545ba8abf1ce8671a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1384 http://rdf.disgenet.org/resource/gda/DGN043d199545a6c3f545ba8abf1ce8671a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0018790 http://rdf.disgenet.org/resource/gda/DGN043d199545a6c3f545ba8abf1ce8671a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_provenance http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_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/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_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/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10434311 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_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/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/dc/terms/created 2015-08-25T14:40:47+02:00 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP324927.RAh3Uv6SJtEFVVQIa4HTpujQ-pxOhNO7urcA6u4oJDXi4 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