@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM> .
@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:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_head {
  this: np:hasAssertion dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_assertion;
    np:hasProvenance dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_provenance;
    np:hasPublicationInfo dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_assertion a np:Assertion .
  
  dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_provenance a np:Provenance .
  
  dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_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:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_provenance {
  dgn-np:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_assertion dcterms: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-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:NP343974.RAfhLBamyN4s7dpSle3T-xkBGnUjPsicY-NqeAc4GvYbM130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:21+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" .
}