@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls> .
@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:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_head {
  this: np:hasAssertion dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion;
    np:hasProvenance dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_provenance;
    np:hasPublicationInfo dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion a np:Assertion .
  
  dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_provenance a np:Provenance .
  
  dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion {
  miriam-gene:10733 a ncit:C16612 .
  
  lld:C0013336 a ncit:C7057 .
  
  dgn-gda:DGNcb5e46096c7ca60ae88f23623dc8a530 sio:SIO_000628 miriam-gene:10733, lld:C0013336;
    a sio:SIO_001121 .
}

dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_provenance {
  dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_assertion dcterms:description
      "[Here we identify mutations in the genes encoding PLK4 kinase, a master regulator of centriole duplication, and its substrate TUBGCP6 in individuals with microcephalic primordial dwarfism and additional congenital anomalies, including retinopathy, thereby extending the human phenotypic spectrum associated with centriole dysfunction.]. 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:25344692;
    prov:wasDerivedFrom dgn-void:ctd_human-20150221;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:ctd_human-20150221 pav:importedOn "2015-02-21"^^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 .
}

dgn-np:NP26248.RA0s-EdLSrYyMme630rTpXo57LDQ0RoEGFMjHsdibS7Ls130_publicationInfo {
  this: dcterms:created "2015-08-25T14:37:55+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" .
}