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  • BackgroundAlthough the majority of human hereditary diseases are due to abnormalities in the DNA sequence of specific genes (point mutations), gene deletions or duplications represent a relevant portion (about 5%) of all disease-causing mutations, and in some cases are the most frequent cause of a genetic disease, such as in the cases of Duchenne Muscular Dystropy (DMD) or Spinal Muscular Atrophy
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