@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E> .
@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:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_head {
  this: np:hasAssertion dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion;
    np:hasProvenance dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_provenance;
    np:hasPublicationInfo dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion a np:Assertion .
  
  dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_provenance a np:Provenance .
  
  dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion {
  miriam-gene:6334 a ncit:C16612 .
  
  lld:C0679466 a ncit:C7057 .
  
  dgn-gda:DGN02930b2ba68f052b7fe9418ff127f821 sio:SIO_000628 miriam-gene:6334, lld:C0679466;
    a sio:SIO_001121 .
}

dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_provenance {
  dgn-np:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_assertion dcterms:description
      "[The phenotypes of the heterozygous individuals suggest that mutations in SCN8A may result in motor and cognitive deficits of variable expressivity, but the study was limited by lack of segregation in the small pedigree and incomplete information about family members.]. 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:16236810;
    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:NP769679.RAC2Tpkh8OCUiod6P6x84iIn6M1s7i578yQC2FaSfMF9E130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:45+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" .
}