http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#head http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#assertion http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#provenance http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#assertion http://rdf.disgenet.org/resource/gda/DGNfbb75618a6cedde61ce95b409ac5156a http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2548 http://rdf.disgenet.org/resource/gda/DGNfbb75618a6cedde61ce95b409ac5156a http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1856689 http://rdf.disgenet.org/resource/gda/DGNfbb75618a6cedde61ce95b409ac5156a http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#provenance http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#assertion http://purl.org/dc/terms/description [Friedreich ataxia (FRDA) is an autosomal recessive degenerative disease caused either by an intronic GAA triplet repeat expansion that suppresses the expression of the frataxin gene on chromosome 9q13, or, rarely, by point mutations in the frataxin gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#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/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9331900 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#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/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/dc/terms/created 2017-10-17T13:12:53+02:00 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP424452.RAlbFsBtCUWOvsekAGToEfMOglIjnWbvNrfv-X8gWb6Qo 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