Genetic Diagnosis of Charcot-Marie-Tooth Disease in a Population by Next-Generation Sequencing
Figure 1
Identified variants in 81 Norwegian CMT families from the general population. Our previous studies identified copy-number variations in 12 CMT families and pathogenic point mutations in 10 CMT families [2, 14, 19]. The remaining 59 CMT families were investigated by next-generation sequencing.
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