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.

中文翻译：

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DNA修复的单基因疾病

维持基因组完整性涉及为特定类型的DNA损伤量身定制的细胞过程。DNA修复途径中的单基因性疾病会导致一系列临床表型，这些表型并不总是与我们对受影响的修复途径的了解相关。