http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_head http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_provenance http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://identifiers.org/ncbigene/8395 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/C0004134 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/DGN2a90213a66dacb9fe37fe137adad40b1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8395 http://rdf.disgenet.org/resource/gda/DGN2a90213a66dacb9fe37fe137adad40b1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0004134 http://rdf.disgenet.org/resource/gda/DGN2a90213a66dacb9fe37fe137adad40b1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_provenance http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://purl.org/dc/terms/description [We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenesis of Friedreich's ataxia by the detection of an intronic GAA repeat expansion as the predominant mutation in affected individuals.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/9177790 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/dc/terms/created 2015-08-25T14:45:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP795194.RAR3PlN99FEEF_9CzrfAll50JIw5xzwX74iHC-u-IloZY http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0