@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0> .
@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:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_head {
  this: np:hasAssertion dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_assertion;
    np:hasProvenance dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_provenance;
    np:hasPublicationInfo dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_assertion a np:Assertion .
  
  dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_provenance a np:Provenance .
  
  dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_assertion {
  miriam-gene:6261 a ncit:C16612 .
  
  lld:C0026848 a ncit:C7057 .
  
  dgn-gda:DGN33040edf163857e471038dc1e0dc8e2b sio:SIO_000628 miriam-gene:6261, lld:C0026848;
    a sio:SIO_001121 .
}

dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_provenance {
  dgn-np:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_assertion dcterms:description
      "[This study showed that all cases presenting with a quantitative defect of RYR1 expression in our panel of patients affected by recessive core myopathies were caused by the presence of one recessive null allele and that variability of the phenotype depended on the nature of the mutation present on the second allele.]. 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:18253926;
    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:NP654109.RAlLhMiSihmOwFPTeuI5xxkEmH_2BNpaFjno0VhStdrz0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:46:41+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" .
}