@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0> .
@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:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_head {
  this: np:hasAssertion dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion;
    np:hasProvenance dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_provenance;
    np:hasPublicationInfo dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion a np:Assertion .
  
  dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_provenance a np:Provenance .
  
  dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion {
  miriam-gene:1294 a ncit:C16612 .
  
  lld:C0014527 a ncit:C7057 .
  
  dgn-gda:DGN9fadfbd470fca2879a84bde9d1f6b6f3 sio:SIO_000628 miriam-gene:1294, lld:C0014527;
    a sio:SIO_001121 .
}

dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_provenance {
  dgn-np:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_assertion dcterms:description
      "[This paper has demonstrated for the first time that identical COL7A1 glycine substitutions can cause remarkably heterogeneous clinical phenotypes extending from simple toe nail dystrophy without skin fragility to typical DDEB and EB pruriginosa.]. 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:15113589;
    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:NP441770.RAtL1TasCzB7FBfw6taj3T7g7uwStXnlzoP80mEOzYFh0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:05+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" .
}