Figure 1.
Overview of the study and investigations performed. (SCA) spinocerebellar ataxia, (EH5) ExpansionHunter5, (RE) repeat expansion, (LP) likely pathogenic, (P) pathogenic, (VUS) variant of uncertain significance.
Overview of the study and investigations performed. (SCA) spinocerebellar ataxia, (EH5) ExpansionHunter5, (RE) repeat expansion, (LP) likely pathogenic, (P) pathogenic, (VUS) variant of uncertain significance.