Clinical implications of loss of interruption variants for diagnosis, genetic counselling, and clinical trials in Huntington's disease
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Age of onset in Huntington disease (HD) is influenced by cis-acting genetic variants, particularly the loss of interrupting codons in the HTT CAG and CCG repeats (CAG-CCG LOI variant). The CAG-CCG LOI variant is not detectable by current diagnostic assays, lea... ...
