dgn-np:NP537558.RAuv_qcvW-tkCvgMI8wLhj3EizrlHeBSmFtqaxvusJAo8130_provenance {
  dgn-np:NP537558.RAuv_qcvW-tkCvgMI8wLhj3EizrlHeBSmFtqaxvusJAo8130_assertion dcterms:description "[Our study confirmed that the p.R225X mutation leads to cardiac conduction disease with late or no development of DCM, underscoring the importance of this mutation in putative familial 'lone conduction disease.' Nearly one third of LMNA mutation carriers had experienced a thromboembolic event.]. 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:18035086 ;
    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 .
}