@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50> .
@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:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_head {
  this: np:hasAssertion dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_assertion;
    np:hasProvenance dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_provenance;
    np:hasPublicationInfo dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_assertion a np:Assertion .
  
  dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_provenance a np:Provenance .
  
  dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_assertion {
  miriam-gene:6323 a ncit:C16612 .
  
  lld:C0338484 a ncit:C7057 .
  
  dgn-gda:DGNc4e544f6448b2c8b4a99193f534f509f sio:SIO_000628 miriam-gene:6323, lld:C0338484;
    a sio:SIO_001121 .
}

dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_provenance {
  dgn-np:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_assertion dcterms:description
      "[We report new clinical data supporting cosegregation of familial hemiplegic migraine and the new eye phenotype of elicited repetitive daily blindness and two novel SCN1A mutations as the underlying genetic defect in two unrelated families.]. 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:19332696;
    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:NP729468.RAXL2RrILIHHjMpYmoYAkl1OXlcO9SDjWeri3roT5WW50130_publicationInfo {
  this: dcterms:created "2016-05-13T12:47:16+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" .
}