dgn-np:NP1031864.RAMt69xIiom-czUj12owFEJETwZcgkxmNpSwJWpYiOmE0130_provenance {
  dgn-np:NP1031864.RAMt69xIiom-czUj12owFEJETwZcgkxmNpSwJWpYiOmE0130_assertion dcterms:description "[The absence of supernumerary teeth in this individual with CCD demonstrates that there are variations in the phenotypes and mere absence of mutations does not imply that CCD phenotype is not governed by RUNX2 gene as only two-thirds of the individuals exhibiting a CCD phenotype would reveal a RUNX2 mutation; therefore, the influence of copy number variations including large insertions, intragenic deletions, duplications, and inversions of genes cannot be excluded completely.]. 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:23188595 ;
    prov:wasDerivedFrom dgn-void:befree-2016 ;
    prov:wasGeneratedBy eco:ECO_0000203 .
  dgn-void:befree-2016 pav:importedOn "2016-02-19"^^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 .
}