dgn-np:NP627387.RAk_dZsRs0C142YPQUvZXBOFLB408QC9OU_VedJ6ky4qY130_provenance {
  dgn-np:NP627387.RAk_dZsRs0C142YPQUvZXBOFLB408QC9OU_VedJ6ky4qY130_assertion dcterms:description "[In addition, a rare autosomal recessive skin fragility-ectodermal dysplasia syndrome has recently been recognised which results from total ablation of plakophilin 1, an intracellular desmosomal plaque protein that reinforces adhesion between the cytoskeleton and the cell membrane in terminally differentiating keratinocytes.]. 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:10379701 ;
    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 .
}