@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY> .
@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:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_head {
   this: np:hasAssertion dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion ;
    np:hasProvenance dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance ;
    np:hasPublicationInfo dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion a np:Assertion .
  dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance a np:Provenance .
  dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion {
   miriam-gene:3861 a ncit:C16612 .
  lld:C0079298 a ncit:C7057 .
  dgn-gda:DGN8f26e03283a544ec19842b0c885e17ac sio:SIO_000628 miriam-gene:3861 , lld:C0079298 ;
    a sio:SIO_001122 .
}
dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_provenance {
   dgn-np:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_assertion dcterms:description "[In this way, three novel mutations could be identified, Y415H, L419Q, and E422K, all located in the helix termination motif of the keratin 14 rod domain 2B, resulting in moderate, severe, and mild epidermolysis bullosa simplex phenotype, respectively.]. 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:10733662 ;
    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:NP278998.RAVDGSFbFe73KMSqS3clp2GwldmVEhSxkNPh_KknyBQlY130_publicationInfo {
   this: dcterms:created "2016-05-13T12:43:52+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" .
}