@prefix this: <http://rdf.disgenet.org/nanopublications.trig#NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s> .
@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:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_head {
  this: np:hasAssertion dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion;
    np:hasProvenance dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance;
    np:hasPublicationInfo dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo;
    a np:Nanopublication .
  
  dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion a np:Assertion .
  
  dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance a np:Provenance .
  
  dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo a
      np:PublicationInfo .
}

dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion {
  miriam-gene:4094 a ncit:C16612 .
  
  lld:C0266544 a ncit:C7057 .
  
  dgn-gda:DGN43b481aa57f1f507854b52533665f714 sio:SIO_000628 miriam-gene:4094, lld:C0266544;
    a sio:SIO_001121 .
}

dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_provenance {
  dgn-np:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_assertion dcterms:description
      "[The MAF mutation p.Arg299Ser is the third mutation identified in association with the CCMC phenotype, and all three mutations are located in the basic region of the DNA binding domain in the MAF protein (OMIM 177075).]. 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:17982426;
    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:NP264950.RAa3mmddulAspaVEG2Fvo5pK_D8YhT_9CYjtczz00wz7s130_publicationInfo {
  this: dcterms:created "2014-10-02T12:34:28+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" .
}