@prefix dct: <http://purl.org/dc/terms/> .
@prefix orcid: <http://orcid.org/> .
@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4> .
@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 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:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_head {
  this: np:hasAssertion dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion;
    np:hasProvenance dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_provenance;
    np:hasPublicationInfo dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion a np:Assertion .
  
  dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_provenance a np:Provenance .
  
  dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion {
  miriam-gene:1277 a ncit:C16612 .
  
  lld:C0029434 a ncit:C7057 .
  
  dgn-gda:DGN243018cb1378968283471faf5983748e sio:SIO_000628 miriam-gene:1277, lld:C0029434;
    a sio:SIO_001121 .
}

dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_provenance {
  dgn-np:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_assertion dct:description
      "[We identified a mutation in the carboxyl-terminal propeptide coding region of one COL1A1 allele in an infant who died with an OI phenotype that differed from the usual lethal form and had regions of increased bone density.]. 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:11826020;
    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:NP174140.RAAzPyl_kF1vn2mmmS5VvG5RLJcAEXntIAKuP8CEKYix4130_publicationInfo {
  this: dct:created "2014-10-02T12:33:34+02:00"^^xsd:dateTime;
    dct:rights <http://opendatacommons.org/licenses/odbl/1.0/>;
    dct:rightsHolder dgn-void:IBIGroup;
    dct:subject sio:SIO_000983;
    prv:usedData dgn-void:disgenetrdf;
    pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X,
      orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654;
    pav:createdBy orcid:0000-0003-0169-8159;
    pav:version "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}