@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1271642.RAghxlZro85IWfctA9wTfgQkeFvvu1Wvr1RjTv-9j7w70> .
@prefix sub: <http://rdf.disgenet.org/resource/nanopub/NP1271642.RAghxlZro85IWfctA9wTfgQkeFvvu1Wvr1RjTv-9j7w70#> .
@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 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-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v5.0.0/void/> .
sub:head {
  this: np:hasAssertion sub:assertion ;
    np:hasProvenance sub:provenance ;
    np:hasPublicationInfo sub:publicationInfo ;
    a np:Nanopublication .
}
sub:assertion {
  dgn-gda:DGN0598ba74b35c348987097d333711ad5b sio:SIO_000628 miriam-gene:25836 , lld:C0003467 ;
    a sio:SIO_001122 .
}
sub:provenance {
  sub:assertion dcterms:description "[In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances.]. 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:19309268 ;
    prov:wasDerivedFrom dgn-void:BEFREE ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:BEFREE pav:importedOn "2017-02-19"^^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 .
}
sub:publicationInfo {
  this: dcterms:created "2017-10-17T13:18:17+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 "v5.0.0.0" .
  dgn-void:disgenetv3.0rdf pav:version "v5.0.0" .
}