@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ> .
@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:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_head {
  this: np:hasAssertion dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_assertion;
    np:hasProvenance dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_provenance;
    np:hasPublicationInfo dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_assertion a np:Assertion .
  
  dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_provenance a np:Provenance .
  
  dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_assertion {
  miriam-gene:5339 a ncit:C16612 .
  
  lld:C0000768 a ncit:C7057 .
  
  dgn-gda:DGN26f3d1946b8d02441c22afee853cc5c6 sio:SIO_000628 miriam-gene:5339, lld:C0000768;
    a sio:SIO_001121 .
}

dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_provenance {
  dgn-np:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_assertion dcterms:description
      "[This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.]. 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:23278578;
    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:NP1039777.RAhBAAdFnEFOdwuKRUxjMRtCt9KPdwkTkpijVZc-M96SQ130_publicationInfo {
  this: dcterms:created "2016-05-13T12:49:37+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" .
}