@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo> .
@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:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_head {
  this: np:hasAssertion dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion;
    np:hasProvenance dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance;
    np:hasPublicationInfo dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion a np:Assertion .
  
  dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance a np:Provenance .
  
  dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion {
  miriam-gene:22941 a ncit:C16612 .
  
  lld:C0018817 a ncit:C7057 .
  
  dgn-gda:DGNe453beb4972b3d3e210f8f2e313696ea sio:SIO_000628 miriam-gene:22941, lld:C0018817;
    a sio:SIO_001121 .
}

dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_provenance {
  dgn-np:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_assertion dcterms:description
      "[DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (controls) revealed additional variants that were specific to ASD and mental retardation cases, including a de novo nonsense mutation and seven rare inherited changes.]. 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:20473310;
    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:NP812451.RAAcyGj7x_nnh3C2rnZXAJeOfanuOFK2rY4e60dNy3vmo130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:53+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" .
}