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Maintenance of genomic integrity involves cellular processes tailored to specific types of DNA damage. Monogenic disorders in DNA-repair pathways lead to a spectrum of clinical phenotypes that are not always correlated with our understanding of the affected repair pathway.
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This page is a summary of: Monogenic Diseases of DNA Repair, The New England Journal of Medicine and Surgery and the Collateral Branches of Science, November 2017, New England Journal of Medicine (NEJM/MMS),
DOI: 10.1056/nejmra1703366.
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