@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec> .
@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 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:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_head {
   this: np:hasAssertion dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion ;
    np:hasProvenance dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_provenance ;
    np:hasPublicationInfo dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion a np:Assertion .
  dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_provenance a np:Provenance .
  dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion {
   miriam-gene:540 a ncit:C16612 .
  lld:C0019202 a ncit:C7057 .
  dgn-gda:DGN73b301255dd50c77d7052facc2a1e031 sio:SIO_000628 miriam-gene:540 , lld:C0019202 ;
    a sio:SIO_001122 .
}
dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_provenance {
   dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_assertion dcterms:description "[The results produced in this study strongly suggest that DNA mutations residing in the consensus sequence of WD gene splice sites result in the WD phenotype by interfering with the production of the normal WD protein.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:12325021 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP2266.RAsSxOFsMuQOE71NzTTUeDjR391yvS-YabTsIjiqqOSec130_publicationInfo {
   this: dcterms:created "2016-05-13T12:41:51+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 orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}