@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac> .
@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/eco.owl#> .
@prefix wi: <http://purl.org/ontology/wi/core#> .
@prefix prov: <http://www.w3.org/ns/prov#> .
@prefix pav: <http://purl.org/pav/2.0/> .
@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/nanopublications.trig#> .
@prefix dgn-gda: <http://rdf.disgenet.org/gene-disease-association.ttl#> .
@prefix dgn-void: <http://rdf.disgenet.org/v2.1.0/void.ttl#> .

dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_head {
  this: np:hasAssertion dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_assertion;
    np:hasProvenance dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_provenance;
    np:hasPublicationInfo dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_assertion a np:Assertion .
  
  dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_provenance a np:Provenance .
  
  dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_assertion {
  miriam-gene:1277 a ncit:C16612 .
  
  lld:C0013720 a ncit:C7057 .
  
  dgn-gda:DGNdad2b1f4463c7b592f564db8874b8fac sio:SIO_000628 miriam-gene:1277, lld:C0013720;
    a sio:SIO_001121 .
}

dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_provenance {
  dgn-np:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_assertion dcterms:description
      "[Thus, in contrast to mutations in genes that encode the dominant protein of a tissue (e.g., COL1A1 and COL2A1), in which `null` mutations result in phenotypes milder than those caused by mutations that alter protein sequence, the phenotypes produced by these mutations in COL3A1 overlap with those of the vascular form of EDS.]. 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:11577371;
    prov:wasDerivedFrom dgn-void:befree-20140225;
    prov:wasGeneratedBy eco:ECO_0000203 .
  
  dgn-void:befree-20140225 pav:importedOn "2014-02-25"^^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:NP762104.RAcAh4dHaU254StH8SfoiASD7lDJP_xp867ollkqREDac130_publicationInfo {
  this: dcterms:created "2014-10-02T12:39:41+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:disgenetrdf;
    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 "v2.1.0.0" .
  
  dgn-void:disgenetrdf pav:version "v2.1.0" .
}