@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s> .
@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:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_head {
  this: np:hasAssertion dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_assertion;
    np:hasProvenance dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_provenance;
    np:hasPublicationInfo dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_assertion a np:Assertion .
  
  dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_provenance a np:Provenance .
  
  dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_assertion {
  miriam-gene:64324 a ncit:C16612 .
  
  lld:C0025362 a ncit:C7057 .
  
  dgn-gda:DGN10a6ffd80ef0791120eb4784bb38b015 sio:SIO_000628 miriam-gene:64324, lld:C0025362;
    a sio:SIO_001121 .
}

dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_provenance {
  dgn-np:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_assertion dcterms:description
      "[In order to investigate a possible phenotype-genotype correlation and to further define the predictive value of NSD1 mutations, we performed mutational analysis of the NSD1 gene in 20 patients and one familial case with Sotos syndrome, five patients with Weaver syndrome, six patients with unclassified overgrowth/mental retardation, and six patients with macrocephaly/mental retardation.]. 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:14571271;
    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:NP369230.RAadV36rv9yLD_7tH_HyQj4ZkKWbT2ou0MHEtnnKslh0s130_publicationInfo {
  this: dcterms:created "2014-10-02T12:35:36+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" .
}