@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08> .
@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:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_head {
  this: np:hasAssertion dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_assertion;
    np:hasProvenance dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_provenance;
    np:hasPublicationInfo dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_assertion a np:Assertion .
  
  dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_provenance a np:Provenance .
  
  dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_assertion {
  miriam-gene:1294 a ncit:C16612 .
  
  lld:C0079294 a ncit:C7057 .
  
  dgn-gda:DGN485125d33b1c98ce455c9bf3cac9c60c sio:SIO_000628 miriam-gene:1294, lld:C0079294;
    a sio:SIO_001121 .
}

dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_provenance {
  dgn-np:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_assertion dcterms:description
      "[Haplotype analysis and homozygosity by descent suggest that all families classified clinically as having DEB and the patient who presented with an unclassified form of EB are likely linked to the COL7A1 gene, and showed evidence for exclusion for the simplex and junctional cases.]. 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:18496702;
    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:NP672364.RAZyifrEOiqTSxI9Ld_uDyTIs0h6SO5Q625OGej721r08130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:50+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" .
}