@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0> .
@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:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_head {
  this: np:hasAssertion dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_assertion;
    np:hasProvenance dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_provenance;
    np:hasPublicationInfo dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_assertion a np:Assertion .
  
  dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_provenance a np:Provenance .
  
  dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_assertion {
  miriam-gene:7844 a ncit:C16612 .
  
  lld:C0014527 a ncit:C7057 .
  
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    a sio:SIO_001121 .
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dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_provenance {
  dgn-np:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_assertion dcterms:description
      "[We conclude that 1) transmission electron microscopy can be used to prenatally exclude the diagnosis of dominant dystrophic EB (Cockayne-Touraine variety), 2) immunofluorescence mapping is an accurate technique for prenatal as well as postnatal diagnosis of EB, and 3) KF-1 cannot by itself be used as an accurate probe for the prenatal diagnosis of dominant dystrophic EB, due to the apparent variability in the time for the normal expression of KF-1 in fetal skin during the second trimester.]. 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:3049834;
    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:NP683999.RAJHBQ7hoFeXRefxVofvUSBTsjyWNvsxigPQm_rtbFfI0130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:55+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" .
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