Article

Novel ATXN10 repeat motif patterns in Peruvian families modify disease age at onset

2025-02-12

Abstract excerpt

<title>Abstract</title> <p><bold>Objectives: </bold>Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant disorder caused by large intronic expansions of pentanucleotide repeats in the <italic>ATXN10</italic> gene. While various repeat motifs have been described, emerging evidence suggests that specific repeat motifs—rather than merely repeat length alone—can significantly modify disease features such a...

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Literature Corpus work: fd0cc1ac-e415-5b58-b550-859aa132d8f3
DOI: 10.21203/rs.3.rs-5989910/v1

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