@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw> .
@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:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_head {
  this: np:hasAssertion dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion;
    np:hasProvenance dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_provenance;
    np:hasPublicationInfo dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion a np:Assertion .
  
  dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_provenance a np:Provenance .
  
  dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion {
  miriam-gene:4292 a ncit:C16612 .
  
  lld:C0206684 a ncit:C7057 .
  
  dgn-gda:DGNbfa33e154761e3f03eb7ceb619a6abce sio:SIO_000628 miriam-gene:4292, lld:C0206684;
    a sio:SIO_001122 .
}

dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_provenance {
  dgn-np:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_assertion dcterms:description
      "[We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. 2194A&gt;T in the last exon of MLH1 gene, resulting in truncated protein in C-terminal region p. Lys732X due to premature stop codon.]. 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:25197397;
    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:NP1217871.RA3wJ88DonHmeJ7x9JbavOf_zsvxGLD-eyLn-5f7-A3Dw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:58+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" .
}