@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM> .
@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:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_head {
  this: np:hasAssertion dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_assertion;
    np:hasProvenance dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_provenance;
    np:hasPublicationInfo dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_assertion a np:Assertion .
  
  dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_provenance a np:Provenance .
  
  dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_assertion {
  miriam-gene:3918 a ncit:C16612 .
  
  lld:C0026499 a ncit:C7057 .
  
  dgn-gda:DGN43a0bc23d27e6df4d0101b6957cccf99 sio:SIO_000628 miriam-gene:3918, lld:C0026499;
    a sio:SIO_001121 .
}

dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_provenance {
  dgn-np:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_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-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:NP466242.RAB_pWz4e4i5M6POtNuPOyFrGbayJtaT4J-8mNa28WzsM130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:39+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" .
}