http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#head http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#assertion http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#provenance http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#assertion http://rdf.disgenet.org/resource/gda/DGN5ee9f23bee6c2351a2f85cb19c681fdf http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/339453 http://rdf.disgenet.org/resource/gda/DGN5ee9f23bee6c2351a2f85cb19c681fdf http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0087012 http://rdf.disgenet.org/resource/gda/DGN5ee9f23bee6c2351a2f85cb19c681fdf http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#provenance http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#assertion http://purl.org/dc/terms/description [Here we used Sanger sequencing to detect mutations in exons of TMEM240 in 340 unrelated probands with spinocerebellar ataxia for whom commonly known causative mutations have been excluded (96 probands of autosomal dominant spinocerebellar ataxia families and 244 patients with sporadic spinocerebellar ataxia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#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/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/26813285 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#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/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/dc/terms/created 2017-10-17T13:19:14+02:00 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1425875.RAq_SGK2EBDBgeENEbMWTjVDahF5z69JL64EUo0uAO48o 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