http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#head http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#assertion http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#provenance http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#assertion http://rdf.disgenet.org/resource/gda/DGN997e65495bb70f05cb06530e2788558e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5621 http://rdf.disgenet.org/resource/gda/DGN997e65495bb70f05cb06530e2788558e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0017495 http://rdf.disgenet.org/resource/gda/DGN997e65495bb70f05cb06530e2788558e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#provenance http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#assertion http://purl.org/dc/terms/description [The unusual phenotype and PrP(Sc)-type distinguishes this genetic prion disease from typical Gerstmann-Str�ussler-Scheinker syndrome and other codon 105 substitutions, suggesting that, in addition to the loss of proline at this position, the PrP(Sc) conformation and phenotype is dependent on the specific amino acid substitution.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#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/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18955686 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#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/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/dc/terms/created 2017-10-17T13:15:40+02:00 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP860496.RAE4Jwcs-3B0BMYPlFCci4swCcgHQKpRJmYFxNeiN7fe0 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