http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#head http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#assertion http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#provenance http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#assertion http://rdf.disgenet.org/resource/gda/DGNd03b4136f723ebf4bb4827794611701d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5621 http://rdf.disgenet.org/resource/gda/DGNd03b4136f723ebf4bb4827794611701d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0022336 http://rdf.disgenet.org/resource/gda/DGNd03b4136f723ebf4bb4827794611701d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#provenance http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#assertion http://purl.org/dc/terms/description [Genetic study of over 200 cases of Creutzfeldt-Jakob disease (CJD), Gerstmann-Str�ussler-Scheinker disease (GSS), fatal familial insomnia (FFI), and kuru have brought a reliable body of evidence that the familial forms of CJD and all known cases of GSS and FFI are linked to germline mutations in the coding region of the PRNP gene on chromosome 20, either point substitutions or expansion of the number of repeat units.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#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/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/7999318 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#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/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/dc/terms/created 2017-10-17T13:15:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP860770.RAxVm5bc-3jrLjtmIKfNfJ_8JXTfp48NNXo8EOgv52rf8 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