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What does ARSACS stand for?

ARSACS stands for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay


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Interestingly, 1 of these alleles corresponded to a previously reported CNV (27,28), which was also detected in other samples analyzed in this study together with SACS point mutations, producing autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) (29, 30, 35).