@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA> .
@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:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_head {
  this: np:hasAssertion dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_assertion ;
    np:hasProvenance dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_provenance ;
    np:hasPublicationInfo dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_assertion a np:Assertion .
  dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_provenance a np:Provenance .
  dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_assertion {
  miriam-gene:3342 a ncit:C16612 .
  lld:C0000768 a ncit:C7057 .
  dgn-gda:DGNc72970b1eb41c8be7221a5911fcc7d71 sio:SIO_000628 miriam-gene:3342 , lld:C0000768 ;
    a sio:SIO_001121 .
}
dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_provenance {
  dgn-np:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_assertion dcterms:description "[Our results show that the use of oligonucleotide-based array- CGH in a clinical diagnostic laboratory increases the detection rate of pathogenic submicroscopic chromosomal aberrations in patients with mental retardation and congenital abnormalities, but it also presents challenges for clinical interpretation of the results (i.e., distinguishing between pathogenic and benign variants).]. 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:22123463 ;
    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:NP194663.RAqX3fJsJ-Uf_Qs-F79DSYtts_1euM2nmb3SdqX5DRJpA130_publicationInfo {
  this: dcterms:created "2014-10-02T12:33:47+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" .
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}