Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance
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DOI: 10.3389/fgene.2022.782685
Abstract: Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative disorders with autosomal dominant inheritance. Genetic testing for SCA leads to diagnosis, prognosis and risk assessment for patients and their family members. While advances in sequencing… read more here.
Keywords: follow studies; variants unknown; spinocerebellar ataxia; unknown significance ... See more keywords