http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#head
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#assertion
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#provenance
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#assertion
http://rdf.disgenet.org/resource/gda/DGNd4c27660ea5efca2f2d7313e911745b9
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2548
http://rdf.disgenet.org/resource/gda/DGNd4c27660ea5efca2f2d7313e911745b9
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0016719
http://rdf.disgenet.org/resource/gda/DGNd4c27660ea5efca2f2d7313e911745b9
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#provenance
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#assertion
http://purl.org/dc/terms/description
[Friedreich ataxia (FRDA) is the most frequent progressive autosomal recessive disorder associated with unstable expansion of GAA trinucleotide repeats in the first intron of the FXN gene, which encodes for the mitochondrial frataxin protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#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/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/24705504
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#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/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/dc/terms/created
2017-10-17T13:12:53+02:00
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP424753.RA6cbjAdMZ5dwzdJyubEIM27i8PA-n72Ux1XRbEM33TME
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