@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0> .
@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:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_head {
  this: np:hasAssertion dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_assertion;
    np:hasProvenance dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_provenance;
    np:hasPublicationInfo dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_assertion a np:Assertion .
  
  dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_provenance a np:Provenance .
  
  dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_assertion {
  miriam-gene:1291 a ncit:C16612 .
  
  lld:C0410179 a ncit:C7057 .
  
  dgn-gda:DGNbcb294f7a1e8b137a6ab385e12103795 sio:SIO_000628 miriam-gene:1291, lld:C0410179;
    a sio:SIO_001121 .
}

dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_provenance {
  dgn-np:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_assertion dcterms:description
      "[at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance.]. 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:16258657;
    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:NP520328.RAL8HThcaTrSgEFYVR-Nu25XyY-2aPdVvxYlzzoCYRBE0130_publicationInfo {
  this: dcterms:created "2016-05-13T12:45:40+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" .
}