@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY> .
@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:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_head {
  this: np:hasAssertion dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_assertion;
    np:hasProvenance dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_provenance;
    np:hasPublicationInfo dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_assertion a np:Assertion .
  
  dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_provenance a np:Provenance .
  
  dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_assertion {
  miriam-gene:79848 a ncit:C16612 .
  
  lld:C0265215 a ncit:C7057 .
  
  dgn-gda:DGN6012febf6ccf66a3649c7d8c78498fac sio:SIO_000628 miriam-gene:79848, lld:C0265215;
    a sio:SIO_001121 .
}

dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_provenance {
  dgn-np:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_assertion dcterms:description
      "[Here, we show that mutations in CSPP1, which encodes a core centrosomal protein, are disease causing on the basis of the independent identification of two homozygous truncating mutations in three consanguineous families (one Arab and two Hutterite) affected by variable ciliopathy phenotypes ranging from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occipital encephalocele.]. 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:24360803;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP670937.RAhmck0BmDmRmNzMS4Y1gYrjfq6RQpgwQ_DAlP5ot03yY130_publicationInfo {
  this: dcterms:created "2014-10-02T12:38:45+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" .
}