@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M> .
@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/v3.0.0/void/> .

dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_head {
  this: np:hasAssertion dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_assertion;
    np:hasProvenance dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_provenance;
    np:hasPublicationInfo dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_assertion a np:Assertion .
  
  dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_provenance a np:Provenance .
  
  dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_assertion {
  miriam-gene:2263 a ncit:C16612 .
  
  lld:C0001193 a ncit:C7057 .
  
  dgn-gda:DGN2e7c0a9b42eb9877d0ea9f84b031c9f8 sio:SIO_000628 miriam-gene:2263, lld:C0001193;
    a sio:SIO_001122 .
}

dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_provenance {
  dgn-np:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_assertion dcterms:description
      "[Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.]. 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:24578066;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP401357.RA5a_7tqep12W_QpOtdnSLy1wLIyrURXASAMlVBW9b33M130_publicationInfo {
  this: dcterms:created "2015-08-25T14:41:33+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}