@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI> .
@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:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_head {
  this: np:hasAssertion dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_assertion;
    np:hasProvenance dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_provenance;
    np:hasPublicationInfo dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_assertion a np:Assertion .
  
  dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_provenance a np:Provenance .
  
  dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_assertion {
  miriam-gene:1277 a ncit:C16612 .
  
  lld:C0268358 a ncit:C7057 .
  
  dgn-gda:DGN6ce333dccc6aad997905464ea67ec68f sio:SIO_000628 miriam-gene:1277, lld:C0268358;
    a sio:SIO_001121 .
}

dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_provenance {
  dgn-np:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_assertion dcterms:description
      "[We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele in each individual.]. 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:7487936;
    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:NP716116.RAj7ULkfi59VWMXcS5EViFrLbHhPLBpPiNuUVaapelAFI130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:15+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" .
}