http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_head http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_assertion http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_provenance http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_assertion http://identifiers.org/ncbigene/56955 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/C0020179 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/DGNaeaaffcd017e71fbe4e5045ba7385a57 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/56955 http://rdf.disgenet.org/resource/gda/DGNaeaaffcd017e71fbe4e5045ba7385a57 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0020179 http://rdf.disgenet.org/resource/gda/DGNaeaaffcd017e71fbe4e5045ba7385a57 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_provenance http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_assertion http://purl.org/dc/terms/description [The analysis of somatic CAG triplet variation in lymphoblastoid cell lines from subjects carrying alleles of intermediate length (IA(33CAG) and IA(34CAG)) in Huntington disease (HD) gene disclosed instability in the DNA of the person, from whom a new expansion mutation of 45 triplets originated.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_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/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15546151 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_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/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/dc/terms/created 2016-05-13T12:45:17+02:00 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP469100.RAYiumsFv3oZGcavqDcbeseeT6tXv4Xx04M-vde5kiLbI 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