@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_head {
  this: np:hasAssertion dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_assertion;
    np:hasProvenance dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_provenance;
    np:hasPublicationInfo dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_assertion a np:Assertion .
  
  dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_provenance a np:Provenance .
  
  dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_assertion {
  miriam-gene:1294 a ncit:C16612 .
  
  lld:C0079136 a ncit:C7057 .
  
  dgn-gda:DGNcc18173a7cad06e8ef6781e0a14feb89 sio:SIO_000628 miriam-gene:1294, lld:C0079136;
    a sio:SIO_001121 .
}

dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_provenance {
  dgn-np:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_assertion dcterms:description
      "[Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also be silent mutations which lead to recessive dystrophic epidermolysis bullosa (RDEB) in combination with additional mutations in the other allele.]. 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:15113589;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP417995.RA_7N27_xQKY__U1k0iOp1ladPCol-Z2XYK5nKoPigT9g130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:08+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}