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- assertion wasGeneratedBy ECO_0000203 provenance.
- assertion wasDerivedFrom BEFREE provenance.
- assertion SIO_000772 22899009 provenance.
- assertion evidence source_evidence_literature provenance.
- assertion description "[Interestingly, mutations in C16orf57 were also observed among patients diagnosed with Rothmund-Thomson syndrome (RTS) and dyskeratosis congenita (DC), which are caused by mutations in genes involved in DNA repair and telomere maintenance.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." provenance.