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Variant - Charcot-Marie-Tooth Disease | Experts in CMT

Variant

aka Mutation

A variant is any change in the DNA sequence of a gene compared with the usual reference sequence. Variants can be harmful, harmless, or beneficial, and they may be inherited or arise anew. In CMT genetic testing, the change identified in a gene is referred to as a variant, and it is then classified by its likely effect, such as pathogenic or a VUS. Variant is the modern term for what was long called a mutation.

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