@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE> .
@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:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_head {
  this: np:hasAssertion dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion;
    np:hasProvenance dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_provenance;
    np:hasPublicationInfo dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion a np:Assertion .
  
  dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_provenance a np:Provenance .
  
  dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion {
  miriam-gene:6323 a ncit:C16612 .
  
  lld:C0751122 a ncit:C7057 .
  
  dgn-gda:DGN145439e0b3f87ee4c359ad68ee1773cd sio:SIO_000628 miriam-gene:6323, lld:C0751122;
    a sio:SIO_001122 .
}

dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_provenance {
  dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_assertion dcterms:description
      "[In three patients with either Dravet syndrome or myoclonic epilepsy, we detected SCN1A mutations (p.R222X, p.P231P, p.R393H), even though other laboratories had previously excluded aberrations of this gene by Sanger sequencing or high-resolution melting analysis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
    wi:evidence dgn-void:source_evidence_curated;
    sio:SIO_000772 miriam-pubmed:22612257;
    prov:wasDerivedFrom dgn-void:uniprot-2016;
    prov:wasGeneratedBy eco:ECO_0000218 .
  
  dgn-void:source_evidence_curated a eco:ECO_0000205;
    rdfs:comment "Gene-disease associations manually curated."@en;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  
  dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}

dgn-np:NP7107.RAVm1YwJlP1FNfsZN2DgfMfeLxQ1f38EYVP-ytszVJmdE130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:53+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" .
}