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. 2022 Mar 25;13:782685. doi: 10.3389/fgene.2022.782685

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Copyright © 2022 Ghorbani, Alimohamed, Vilacha, Van Dijk, De Boer-Bergsma, Fokkens, Lemmink, Sijmons, Sikkema-Raddatz, Groves, Verschuuren-Bemelmans, Verbeek, Van Diemen and Westers.

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Numbers of classified variants in 348 SCA patients. (A) Number of variants classified as P, LP, VUS and LB. (B) Number of VUSes classified as VUS-low, VUS-semi high, VUS-high and VUS-splice. (C) Distribution of P/LP variants, VUS-semi high, VUS-high and VUS-splice over the 36 SCA genes. The list is sorted on gene size with the largest on top (DAB1: 1,551,957 bases) and the smallest on bottom (NOP56: 5,801 bases).