@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg> .
@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:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_head {
  this: np:hasAssertion dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_assertion;
    np:hasProvenance dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_provenance;
    np:hasPublicationInfo dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_assertion a np:Assertion .
  
  dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_provenance a np:Provenance .
  
  dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_assertion {
  miriam-gene:1308 a ncit:C16612 .
  
  lld:C0014527 a ncit:C7057 .
  
  dgn-gda:DGNf89f3f291ffd1c9704d56c236ba452f9 sio:SIO_000628 miriam-gene:1308, lld:C0014527;
    a sio:SIO_001121 .
}

dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_provenance {
  dgn-np:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_assertion dcterms:description
      "[The homozygous nonsense mutations in the COL17A1 gene were consistent with the absence of the collagen from the skin and with the GABEB phenotype, whereas homozygosity for the missense mutation resulted in expression of aberrant collagen XVII and, clinically, in localisata JEB.]. 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:9199555;
    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:NP1375607.RAgRw_JU08qsIuseGXgL97T6T96QoTy8a-SI2Ql1Qi_yg130_publicationInfo {
  this: dcterms:created "2016-05-13T12:52:09+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" .
}