@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU> .
@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:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_head {
  this: np:hasAssertion dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_assertion;
    np:hasProvenance dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_provenance;
    np:hasPublicationInfo dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_assertion a np:Assertion .
  
  dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_provenance a np:Provenance .
  
  dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_assertion {
  miriam-gene:2706 a ncit:C16612 .
  
  lld:C0848332 a ncit:C7057 .
  
  dgn-gda:DGN7d966fe2ee36dafbf4aea9606de21501 sio:SIO_000628 miriam-gene:2706, lld:C0848332;
    a sio:SIO_001121 .
}

dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_provenance {
  dgn-np:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_assertion dcterms:description
      "[We analyzed the GJB2 and SLC26A4 genes for the presence of mutations, screened for the mitochondrial DNA (mtDNA) A1555G mutation, and screened for congenital CMV infection in DNA isolated from dried newborn blood spots.]. 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:23555729;
    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:NP295136.RAcb9Kq5UAP_qEyeJ5Ciw82WfebMy3a_DoyRsNGeWjCcU130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:48+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" .
}