http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#head http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#assertion http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#provenance http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#assertion http://rdf.disgenet.org/resource/gda/DGN54bbcf19c0f5f03d6886a13bffcdc89e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5621 http://rdf.disgenet.org/resource/gda/DGN54bbcf19c0f5f03d6886a13bffcdc89e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0011265 http://rdf.disgenet.org/resource/gda/DGN54bbcf19c0f5f03d6886a13bffcdc89e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#provenance http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#assertion http://purl.org/dc/terms/description [This new mutation extends the list of known pathogenic mutations responsible for genetic CJD, reinforces the clinical heterogeneity of the disease, and advocates for the inclusion of PRNP gene examination in the diagnostic workup of patients with poorly classifiable dementia, even in the absence of family history.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#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/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/22763467 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#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/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/dc/terms/created 2017-10-17T13:15:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP862165.RAWJ1SFTp-CUeMhKGp3X-GMBEmT_9IzvN72fcL50Axq78 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