@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .
@prefix sio: <http://semanticscience.org/resource/> .
@prefix ncit: <http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#> .
@prefix lld: <http://linkedlifedata.com/resource/umls/id/> .
@prefix miriam-gene: <http://identifiers.org/ncbigene/> .
@prefix miriam-pubmed: <http://identifiers.org/pubmed/> .
@prefix eco: <http://purl.obolibrary.org/obo/> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/> .
@prefix prv: <http://purl.org/net/provenance/ns#> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix np: <http://www.nanopub.org/nschema#> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_head {
  this: np:hasAssertion dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_assertion;
    np:hasProvenance dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_provenance;
    np:hasPublicationInfo dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_assertion a np:Assertion .
  
  dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_provenance a np:Provenance .
  
  dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_assertion {
  miriam-gene:5663 a ncit:C16612 .
  
  lld:C0002395 a ncit:C7057 .
  
  dgn-gda:DGNd3d4a2dd39495f4f573d22a4b3342c4c sio:SIO_000628 miriam-gene:5663, lld:C0002395;
    a sio:SIO_001121 .
}

dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_provenance {
  dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_assertion dcterms:description
      "[Two children of an adult with early-onset, autopsy-confirmed Alzheimer disease (AD) developed dementia in their late 20s and were subsequently found to have novel mutations in codon 434 of the presenilin 1 (PS1) gene on chromosome 14, a G-to-T substitution at nucleotide 1548 and a C-to-G substitution at nucleotide 1549.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_literature;
    sio:SIO_000772 miriam-pubmed:11030797;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^xsd:date .
  
  dgn-void:source_evidence_literature a eco:ECO_0000212;
    rdfs:comment "Gene-disease associations inferred from text-mining the literature."@en;
    rdfs:label "DisGeNET evidence - LITERATURE"@en .
}

dgn-np:NP297426.RAvKH7VR6d_ntY4gRTb2N5l96zoG8g-tJnXrtiHbBgHKk130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:00+02:00"^^xsd:dateTime;
    dcterms:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dcterms:rightsHolder dgn-void:IBIGroup;
    dcterms:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetv3.0rdf;
    pav:authoredBy <http://orcid.org/0000-0001-5999-6269>, <http://orcid.org/0000-0002-7534-7661>,
      <http://orcid.org/0000-0002-9383-528X>, <http://orcid.org/0000-0003-0169-8159>, <http://orcid.org/0000-0003-1244-7654>;
    pav:createdBy <http://orcid.org/0000-0003-0169-8159>;
    pav:version "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}