@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_head {
  this: np:hasAssertion dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_assertion;
    np:hasProvenance dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_provenance;
    np:hasPublicationInfo dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_assertion a np:Assertion .
  
  dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_provenance a np:Provenance .
  
  dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_assertion {
  miriam-gene:5727 a ncit:C16612 .
  
  lld:C0004779 a ncit:C7057 .
  
  dgn-gda:DGN8dd5d3ce3ac075d4dd4e7473fad61403 sio:SIO_000628 miriam-gene:5727, lld:C0004779;
    a sio:SIO_001122 .
}

dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_provenance {
  dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_assertion dcterms:description
      "[In order to examine the phenotypic variability in NBCCS and to highlight functionally important domains of the PTCH protein, we have now screened 71 unrelated NBCCS individuals for mutations in the PTCH exons.]. 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:8981943;
    prov:wasDerivedFrom dgn-void:uniprot-20130724;
    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-20130724 pav:importedOn "2013-07-24"^^xsd:date .
}

dgn-np:NP5336.RA19PAmm1aPatl3s7j_Ps7c1X8c7vMYtyDWfZThDIQSZY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:32:00+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}