http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_head http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion http://identifiers.org/ncbigene/2548 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/C0016719 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/DGN72519534ace0c979ed5b0551fe80c43f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2548 http://rdf.disgenet.org/resource/gda/DGN72519534ace0c979ed5b0551fe80c43f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0016719 http://rdf.disgenet.org/resource/gda/DGN72519534ace0c979ed5b0551fe80c43f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion http://purl.org/dc/terms/description [Friedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_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/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/20808827 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_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/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/dc/terms/created 2016-05-13T12:48:04+02:00 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP836280.RAPPAQqG2a0ut3MTRjy38cuXj2HxhBSl_YG9saGlvQEAQ 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