@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI> .
@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-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_head {
  this: np:hasAssertion dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion;
    np:hasProvenance dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_provenance;
    np:hasPublicationInfo dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion a np:Assertion .
  
  dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_provenance a np:Provenance .
  
  dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion {
  miriam-gene:1294 a ncit:C16612 .
  
  lld:C0432322 a ncit:C7057 .
  
  dgn-gda:DGN6d1e85b18fe23b1fc2035a56e1119a98 sio:SIO_000628 miriam-gene:1294, lld:C0432322;
    a sio:SIO_001122 .
}

dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_provenance {
  dgn-np:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_assertion dcterms:description
      "[Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene (COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene.]. 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:10232408;
    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:NP156.RA6OOmL7HJBlTBQ0IcY-iu_oWHefjDNnggvGo_Z9Cs8hI130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:50+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" .
}