@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ> .
@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:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_head {
  this: np:hasAssertion dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_assertion;
    np:hasProvenance dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_provenance;
    np:hasPublicationInfo dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_assertion a np:Assertion .
  
  dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_provenance a np:Provenance .
  
  dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_assertion {
  miriam-gene:128408 a ncit:C16612 .
  
  lld:C1856934 a ncit:C7057 .
  
  dgn-gda:DGN87474f9672742c494ed88f0353ab54ac sio:SIO_000628 miriam-gene:128408, lld:C1856934;
    a sio:SIO_001121 .
}

dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_provenance {
  dgn-np:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_assertion dcterms:description
      "[The lethal form of junctional epidermolysis bullosa with pyloric atresia has been mainly associated with the presence of premature termination codons in the mRNA encoding either the alpha6 or beta4 subunit causing rapid decay of the mutated transcript and absence of alpha6beta4 integrin.]. 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:14675179;
    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:NP424518.RA1fEfb0RXvRkHn56XcB0m2chOQXjFk0L2_2bxfBqIyFQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:44:57+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" .
}