@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8> .
@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/v4.0.0/void/> .

dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_head {
  this: np:hasAssertion dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_assertion;
    np:hasProvenance dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_provenance;
    np:hasPublicationInfo dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_assertion a np:Assertion .
  
  dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_provenance a np:Provenance .
  
  dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_assertion {
  miriam-gene:1399 a ncit:C16612 .
  
  lld:C0000768 a ncit:C7057 .
  
  dgn-gda:DGNe1c34771a13e2b00577de6f18b512c76 sio:SIO_000628 miriam-gene:1399, lld:C0000768;
    a sio:SIO_001121 .
}

dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_provenance {
  dgn-np:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_assertion dcterms:description
      "[We found that the spectrum of heart defects depends on Crkl expression, occurring with analogous malformations to that in human individuals, suggesting that haploinsufficiency of CRKL could be responsible for the etiology of CTDs in individuals with nested distal deletions and might act as a genetic modifier of individuals with the typical 3 Mb deletion.]. 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:25658046;
    prov:wasDerivedFrom dgn-void:befree-2016;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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:NP1261561.RAb_GaYnQa3AhOjCEYYeBHF35TX9ValPrk1dNIokrcyy8130_publicationInfo {
  this: dcterms:created "2016-05-13T12:51:18+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 "v4.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}