Exome sequencing data analysis to characterize copy number variants involved in m.14487T>C mutation. Exome sequencing data analysis to characterize copy number variants involved in m.14487T>C mutation

In this study, we analyze DNA whole-exome sequencing (WES) data from 3 patients with m.14487T>C mutation to detect rare candidate SNVs. Overall design: Examination of EDTA blood of each patient or their biological parents (trio) with m.14487T>C mutation by deep sequencing