@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo> .
@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:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_head {
  this: np:hasAssertion dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_assertion;
    np:hasProvenance dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_provenance;
    np:hasPublicationInfo dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_assertion a np:Assertion .
  
  dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_provenance a np:Provenance .
  
  dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_assertion {
  miriam-gene:540 a ncit:C16612 .
  
  lld:C0019202 a ncit:C7057 .
  
  dgn-gda:DGN194932f0c2fa37b64a21c3fb84a40ba1 sio:SIO_000628 miriam-gene:540, lld:C0019202;
    a sio:SIO_001121 .
}

dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_provenance {
  dgn-np:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_assertion dcterms:description
      "[This study reports 12 novel mutations of the Wilson disease (WD) gene which have been detected by the molecular analysis of 29 patients of Mediterranean descent carrying uncommon chromosomal haplotypes at the WD locus.]. 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:8931691;
    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:NP1362956.RALeCA5BL9cxmx2tsFCvr8qDn6x68Bg5v896HBuJS-EQo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:04+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" .
}