@prefix this: <http://rdf.disgenet.org/resource/nanopub/NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4> .
@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/v3.0.0/void/> .

dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_head {
  this: np:hasAssertion dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_assertion;
    np:hasProvenance dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_provenance;
    np:hasPublicationInfo dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_assertion a np:Assertion .
  
  dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_provenance a np:Provenance .
  
  dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_assertion {
  miriam-gene:1291 a ncit:C16612 .
  
  lld:C0410179 a ncit:C7057 .
  
  dgn-gda:DGNcf296d4c8c0bff51136976f5483ad39d sio:SIO_000628 miriam-gene:1291, lld:C0410179;
    a sio:SIO_001121 .
}

dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_provenance {
  dgn-np:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_assertion dcterms:description
      "[Here we report 10 unrelated patients with a UCMD clinical phenotype and de novo dominant negative heterozygous splice mutations in COL6A1, COL6A2, and COL6A3 and contrast our findings with four UCMD patients with recessively acting splice mutations and two BM patients with heterozygous splice mutations.]. 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:18366090;
    prov:wasDerivedFrom dgn-void:befree-20150227;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20150227 pav:importedOn "2015-02-27"^^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:NP320331.RAI_EZufPwaE9KcC89nPwSQKOv79CLl1jQilLRqhpFyf4130_publicationInfo {
  this: dcterms:created "2015-08-25T14:40:44+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 "v3.0.0.0" .
  
  dgn-void:disgenetv3.0rdf pav:version "v3.0.0" .
}