@prefix orcid: <http://orcid.org/> .
@prefix dc: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8> .
@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 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:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_head {
   this: np:hasAssertion dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_assertion ;
    np:hasProvenance dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_provenance ;
    np:hasPublicationInfo dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_assertion a np:Assertion .
  dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_provenance a np:Provenance .
  dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_assertion {
   miriam-gene:1308 a ncit:C16612 .
  lld:C0268374 a ncit:C7057 .
  dgn-gda:DGN6437b676a2a1166062c1615403ab559c sio:SIO_000628 miriam-gene:1308 , lld:C0268374 ;
    a sio:SIO_001122 .
}
dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_provenance {
   dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_assertion dc: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_curated ;
    sio:SIO_000772 miriam-pubmed:9199555 ;
    prov:wasDerivedFrom dgn-void:uniprot-2016 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
dgn-np:NP9414.RAtBEJjSMIQzHbZsIwostE0J4bOyYQqIr42nzd35cwqt8130_publicationInfo {
   this: dc:created "2016-05-13T12:41:54+02:00"^^xsd:dateTime ;
    dc:rights <http://opendatacommons.org/licenses/odbl/1.0/> ;
    dc:rightsHolder dgn-void:IBIGroup ;
    dc:subject sio:SIO_000983 ;
    prv:usedData dgn-void:disgenetv3.0rdf ;
    pav:authoredBy orcid:0000-0001-5999-6269 , orcid:0000-0002-7534-7661 , orcid:0000-0002-9383-528X , orcid:0000-0003-0169-8159 , orcid:0000-0003-1244-7654 ;
    pav:createdBy orcid:0000-0003-0169-8159 ;
    pav:version "v4.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}