@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ> .
@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:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_head {
  this: np:hasAssertion dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion;
    np:hasProvenance dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_provenance;
    np:hasPublicationInfo dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion a np:Assertion .
  
  dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_provenance a np:Provenance .
  
  dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion {
  miriam-gene:4436 a ncit:C16612 .
  
  lld:C0018939 a ncit:C7057 .
  
  dgn-gda:DGN6b0e1123bbbe0aa963c9acfec93dfb5b sio:SIO_000628 miriam-gene:4436, lld:C0018939;
    a sio:SIO_001121 .
}

dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_provenance {
  dgn-np:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_assertion dcterms:description
      "[Notably, two unrelated patients showing RER+ phenotype had an identical missense alteration at codon 419 of hMSH2 in their marrow cells and fibroblasts, which were not found in 120 DNA samples from healthy volunteers or patients with other hematological disorders.]. 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:10450752;
    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:NP260655.RAvTRui-1xpj3CAFHQWD-D1LJbhTQYYzf028b4hYN6LdQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:43:44+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" .
}