@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0> .
@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/v3.0.0/void/> .

dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_head {
  this: np:hasAssertion dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion;
    np:hasProvenance dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance;
    np:hasPublicationInfo dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion a np:Assertion .
  
  dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance a np:Provenance .
  
  dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion {
  miriam-gene:3918 a ncit:C16612 .
  
  lld:C0079301 a ncit:C7057 .
  
  dgn-gda:DGNd41d0796ab9537c2e114ac58ff571377 sio:SIO_000628 miriam-gene:3918, lld:C0079301;
    a sio:SIO_001122 .
}

dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_provenance {
  dgn-np:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_assertion dcterms:description
      "[Thus, the Herlitz junctional epidermolysis bullosa phenotype in this patient is caused by homozygous LAMC2 mutation C553X that is of paternal origin and results from nondisjunction and uniparental disomy involving monosomy rescue.]. 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:10951251;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP531030.RAmp5UiZEzTfuqW6nlv258fLoOUibF5bzzH1IFQ9VEwp0130_publicationInfo {
  this: dcterms:created "2015-08-25T14:42:54+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}