dgn-np:NP678020.RARYflcWfxhVTuRYFTlXfdP2JGIm_mI91KfkkruhSE7kg130_provenance {
  dgn-np:NP678020.RARYflcWfxhVTuRYFTlXfdP2JGIm_mI91KfkkruhSE7kg130_assertion dcterms:description "[Our results extend the repertoire of loricrin mutations underlying LK, provide further evidence that heterogeneous phenotypes of LK may be the result of genetic heterogeneity of loricrin mutations, and demonstrate that nuclear accumulation of mutant loricrin is due to the nuclear targeting sequences in the mutant C-terminus.]. 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:18844868 ;
    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 .
}