@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA> .
@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:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_head {
  this: np:hasAssertion dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_assertion;
    np:hasProvenance dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_provenance;
    np:hasPublicationInfo dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_assertion a np:Assertion .
  
  dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_provenance a np:Provenance .
  
  dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_assertion {
  miriam-gene:8573 a ncit:C16612 .
  
  lld:C2677903 a ncit:C7057 .
  
  dgn-gda:DGN7eec6f6aaae430da4d86c549ebe7f27c sio:SIO_000628 miriam-gene:8573, lld:C2677903;
    a sio:SIO_001121 .
}

dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_provenance {
  dgn-np:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_assertion dcterms:description
      "[The results provide novel mutations and copy number aberrations of CASK, causing MR with MICPCH, and also demonstrate the similarity of the phenotypes of MR with MICPCH regardless of the CASK mutation.]. 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:21735175;
    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:NP472315.RAZTaQMq2d8nRVgHtY0yTLS_JF9CE3bN7B9t9ghx0cTyA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:36:43+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" .
}