http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#head http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#assertion http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#provenance http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#assertion http://rdf.disgenet.org/resource/gda/DGN17f0a803ef3ec388456151c7960b7015 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2395 http://rdf.disgenet.org/resource/gda/DGN17f0a803ef3ec388456151c7960b7015 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1856689 http://rdf.disgenet.org/resource/gda/DGN17f0a803ef3ec388456151c7960b7015 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#provenance http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#assertion http://purl.org/dc/terms/description [Friedreich's ataxia (FRDA), the autosomal recessive degenerative disorder of nervous and muscles tissue, is caused by the massive expansion of (GAA) repeats that occur in the first intron of Frataxin gene X25 on chromosome 9q13-q21.1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#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/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22750988 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#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/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/dc/terms/created 2017-10-17T13:12:50+02:00 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP416678.RAG6IwiV489t7iONzYdn7LQDZCApavi2vTeAQBT-TZceU 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