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  1. Article

    Open Access

    Functional characterization of variants of unknown significance in a spinocerebellar ataxia patient using an unsupervised machine learning pipeline

    CAG-expanded ATXN7 has been previously defined in the pathogenesis of spinocerebellar ataxia type 7 (SCA7), a polyglutamine expansion autosomal dominant cerebellar ataxia. Pathology in SCA7 occurs as a result of ...

    Siddharth Nath, Nicholas S. Caron, Linda May… in Human Genome Variation (2022)

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