Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review
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Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. Reports of affected carriers with subthreshold repeat expansions and of patients with Parkinson's disease (PD) with expanded repeat... ...
