Delineating the pathogenic threshold and phenotypic spectrum of SCA27B: findings from a large French-Canadian cohort
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Background: Autosomal dominant spinocerebellar ataxia 27B (SCA27B), caused by an intronic (GAA•TTC) repeat expansion in FGF14, is a common cause of late-onset cerebellar ataxia, but its genotypic and phenotypic spectrum remains ... ...
