@prefix dgn-np: <http://rdf.disgenet.org/resource/nanopub/> .
@prefix dcterms: <http://purl.org/dc/terms/> .
@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y> .
@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 np: <http://www.nanopub.org/nschema#> .
@prefix dgn-gda: <http://rdf.disgenet.org/resource/gda/> .
@prefix dgn-void: <http://rdf.disgenet.org/v4.0.0/void/> .

dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_head {
  this: np:hasAssertion dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion;
    np:hasProvenance dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_provenance;
    np:hasPublicationInfo dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion a np:Assertion .
  
  dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_provenance a np:Provenance .
  
  dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_publicationInfo a np:PublicationInfo .
}

dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion {
  miriam-gene:6261 a ncit:C16612 .
  
  lld:C0751951 a ncit:C7057 .
  
  dgn-gda:DGNb76c8b724c47ea05f601710f7320877c sio:SIO_000628 miriam-gene:6261, lld:C0751951;
    a sio:SIO_001122 .
}

dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_provenance {
  dgn-np:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_assertion dcterms:description
      "[Comparison with two other coexpressed mutant/normal channels suggests that the I4898T mutation produces one of the most abnormal RyR1 channels yet investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected central core disease individuals.]. 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:10097181;
    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:NP78.RAZ_0zevlZLH7yhENFQEVRRmRKf7TDGfJ29mwiuQl0f1Y130_publicationInfo {
  this: dcterms:created "2016-05-13T12:41:50+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" .
}