dgn-np:NP650830.RApYKB2XxngZAXK21WxpqnsUmr8BWkc3d42ySNnqrem0Q130_provenance {
  dgn-np:NP650830.RApYKB2XxngZAXK21WxpqnsUmr8BWkc3d42ySNnqrem0Q130_assertion dcterms:description "[Whole exome sequencing in a family with suspected dominant Kufs disease identified a novel Presenilin 1 mutation p.Leu(381)Phe in three brothers who, along with their father, developed progressive dementia and motor deficits in their early 30 s. All affected relatives had unusually rapid disease progression (on average 3.6 years from disease onset to death).]. 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:24121961 ;
    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 .
}