dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_provenance {
  dgn-np:NP151957.RACPDol8Ud3HanLR8QrvjHIEbsEODwIRYcr2WhXrPrUx8130_assertion dcterms:description "[Twenty-one mutations in COL4A5 gene were identified in patients with Alport syndrome and they include four gross deletions, two deep intronic mutations, three frameshifts, three splice site mutations, eight missense mutations and one inframe deletion.]. 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:16941480 ;
    prov:wasDerivedFrom dgn-void:lhgdn-20090331 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:lhgdn-20090331 pav:importedOn "2009-03-31"^^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 .
}