@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP871310.RAmGPZNnxZCNW1BDbU89x-Eu4qrk-5UaIBEMq6sBr3_jI> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP871310.RAmGPZNnxZCNW1BDbU89x-Eu4qrk-5UaIBEMq6sBr3_jI#> .
@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 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-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .

sub:head {
  this: np:hasAssertion sub:assertion;
    np:hasProvenance sub:provenance;
    np:hasPublicationInfo sub:publicationInfo;
    a np:Nanopublication .
}

sub:assertion {
  dgn-gda:DGN041b4def7f59ba9f52f5e5532b413c62 sio:SIO_000628 miriam-gene:5727, lld:C0004779;
    a sio:SIO_001121 .
}

sub:provenance {
  sub:assertion dcterms:description "[This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation.]. 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:18539553;
    prov:wasDerivedFrom dgn-void:CTD_human;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:CTD_human pav:importedOn "2017-01-25"^^xsd:date .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
}

sub:publicationInfo {
  this: dcterms:created "2017-10-17T13:15:44+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 "v5.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}