@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc> .
@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:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_head {
   this: np:hasAssertion dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion ;
    np:hasProvenance dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_provenance ;
    np:hasPublicationInfo dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_publicationInfo ;
    a np:Nanopublication .
  dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion a np:Assertion .
  dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_provenance a np:Provenance .
  dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_publicationInfo a np:PublicationInfo .
}
dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion {
   miriam-gene:4208 a ncit:C16612 .
  lld:C0432072 a ncit:C7057 .
  dgn-gda:DGN02f6915383893b2b0fe3e6b1183db3fa sio:SIO_000628 miriam-gene:4208 , lld:C0432072 ;
    a sio:SIO_001121 .
}
dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_provenance {
   dgn-np:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_assertion dcterms:description "[In case 1, CMA revealed an approximately 140 kb deletion encompassing the first three exons of MEF2C in a 3-year-old patient with severe psychomotor retardation, periodic tremor, and an abnormal motor pattern with mirror movement of the upper limbs observed during infancy, hypotonia, abnormal EEG, epilepsy, absence of speech, autistic behavior, bruxism, and mild dysmorphic features.]. 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:20333642 ;
    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:NP802170.RAFxBZOydZExK8AkQ2fnOKfWGgXbxDIN6PHbh4TVU0mGc130_publicationInfo {
   this: dcterms:created "2016-05-13T12:47:48+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" .
}