@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y> .
@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:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_head {
  this: np:hasAssertion dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_assertion;
    np:hasProvenance dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_provenance;
    np:hasPublicationInfo dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_assertion a np:Assertion .
  
  dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_provenance a np:Provenance .
  
  dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_assertion {
  miriam-gene:1300 a ncit:C16612 .
  
  lld:C1868678 a ncit:C7057 .
  
  dgn-gda:DGNcd3bd1feba4cb920bed94832e4906a47 sio:SIO_000628 miriam-gene:1300, lld:C1868678;
    a sio:SIO_001121 .
}

dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_provenance {
  dgn-np:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_assertion dcterms:description
      "[We investigated whether mutations within the human COL10A1 gene were responsible for causing the disorders achondroplasia, hypochondroplasia, pseudoachondroplasia, and thanatophoric dysplasia, by analyzing the coding regions of the gene by using PCR and the single-stranded conformational polymorphism technique.]. 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:1329505;
    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:NP423131.RA2PcEmMGranCoDXMYIX9SeP-N680Id1TGuLtXjcCbI7Y130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:11+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" .
}