@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek> .
@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:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_head {
  this: np:hasAssertion dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_assertion;
    np:hasProvenance dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_provenance;
    np:hasPublicationInfo dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_assertion a np:Assertion .
  
  dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_provenance a np:Provenance .
  
  dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_assertion {
  miriam-gene:1278 a ncit:C16612 .
  
  lld:C0268338 a ncit:C7057 .
  
  dgn-gda:DGNdfed1ceb462c04deb2d58066824a4977 sio:SIO_000628 miriam-gene:1278, lld:C0268338;
    a sio:SIO_001121 .
}

dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_provenance {
  dgn-np:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_assertion dcterms:description
      "[Amplified cDNAs prepared from lymphoblastoid cells were used to identify previously characterized heterozygous mutations in the COL1A1 and COL1A2 genes from two patients with osteogenesis imperfecta and in the COL3A1 gene from a patient with the Ehlers-Danlos syndrome type IV.]. 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:1905723;
    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:NP631412.RA-m70c5VKbckRi-hM6_Tw1CS_dTLL9J0hBcTt_29jkek130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:21+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: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" .
}