@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts> .
@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:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_head {
  this: np:hasAssertion dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion;
    np:hasProvenance dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_provenance;
    np:hasPublicationInfo dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion a np:Assertion .
  
  dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_provenance a np:Provenance .
  
  dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion {
  miriam-gene:1145 a ncit:C16612 .
  
  lld:C0037285 a ncit:C7057 .
  
  dgn-gda:DGN0ce9b7dcf1a9594eb7a0e39af8e342b9 sio:SIO_000628 miriam-gene:1145, lld:C0037285;
    a sio:SIO_001121 .
}

dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_provenance {
  dgn-np:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_assertion dcterms:description
      "[While the skin manifestations are because of the PLEC1 mutation, footprints of mutations in PLEC1 and CHRNE are present at the neuromuscular junction of the patient indicating that abnormalities in both genes contribute to the CMS phenotype.]. 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:21175599;
    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:NP860792.RA_cG1h-pmRmMv7r1QSTcL6aytxL8zeQDdwJC6tWh_pts130_publicationInfo {
  this: dcterms:created "2016-05-13T12:48:15+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" .
}