@prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_head { this: np:hasAssertion dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_assertion; np:hasProvenance dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_provenance; np:hasPublicationInfo dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_publicationInfo; a np:Nanopublication . dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_assertion a np:Assertion . dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_provenance a np:Provenance . dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_publicationInfo a np:PublicationInfo . } dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_assertion { miriam-gene:2395 a ncit:C16612 . lld:C0016719 a ncit:C7057 . dgn-gda:DGN0f41709962d92c3da4515ed739d51083 sio:SIO_000628 miriam-gene:2395, lld:C0016719; a sio:SIO_001121 . } dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_provenance { dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_assertion dcterms: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."@en; wi:evidence dgn-void:source_evidence_literature; sio:SIO_000772 miriam-pubmed:24705504; prov:wasDerivedFrom dgn-void:befree-2016; prov:wasGeneratedBy eco:ECO_0000203 . dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date . dgn-void:source_evidence_literature a eco:ECO_0000212; rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en; rdfs:label "DisGeNET evidence - LITERATURE"@en . } dgn-np:NP1170728.RAeTV9h2IW1QSMF2MkX8RrAhYyPwbfJs50w3H-hUwbMEs130_publicationInfo { this: dcterms:created "2016-05-13T12:50:36+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v4.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v4.0.0" . }