@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw> .
@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:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_head {
  this: np:hasAssertion dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_assertion;
    np:hasProvenance dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_provenance;
    np:hasPublicationInfo dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_assertion a np:Assertion .
  
  dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_provenance a np:Provenance .
  
  dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_publicationInfo
    a np:PublicationInfo .
}

dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_assertion {
  miriam-gene:189 a ncit:C16612 .
  
  lld:C0342751 a ncit:C7057 .
  
  dgn-gda:DGN9222ea344d3d272f8b931c682a83b0d3 sio:SIO_000628 miriam-gene:189, lld:C0342751;
    a sio:SIO_001121 .
}

dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_provenance {
  dgn-np:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_assertion dcterms:description
      "[DNA was extracted and tested for GAA mutations and some genetic polymorphisms able to influence muscle properties (ACE, ACTN3, AGT and PPARα genes).We compared the polymorphisms analyzed in groups of patients with Pompe disease clustered for their homogeneous genotype.]. 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:25103075;
    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:NP1208600.RA2jx7rxvZw3LBH-hZ1uRRAgmtNyJOS1t9rtrOW2wzQUw130_publicationInfo {
  this: dcterms:created "2016-05-13T12:50:53+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" .
}