http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#head http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#assertion http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#provenance http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#assertion http://rdf.disgenet.org/resource/gda/DGNb6d18e17718b142572241f0942983a4e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5663 http://rdf.disgenet.org/resource/gda/DGNb6d18e17718b142572241f0942983a4e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0007758 http://rdf.disgenet.org/resource/gda/DGNb6d18e17718b142572241f0942983a4e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#provenance http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#assertion http://purl.org/dc/terms/description [Presenilin 1 (PSEN1) gene mutations deterministic for Alzheimer's disease (AD) are associated with marked heterogeneity in clinical phenotype, with behavioral and psychiatric features, parkinsonism, myoclonus, epileptic seizures, spastic paraparesis, frontal behavioral changes suggestive of the phenotype of frontotemporal dementia, aphasia, and cerebellar ataxia being described as well as cognitive decline.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#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/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/23948899 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#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/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/dc/terms/created 2017-10-17T13:15:42+02:00 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP866771.RA9xwFBnvGIZDtHFE4ZsbSD89p92SivMb96O_kvzqrGO8 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