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Published in 2024 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.52094
Abstract: Biallelic mutations in PRDX3 have been linked to autosomal recessive spinocerebellar ataxia type 32. In this study, which aims to contribute to the growing body of knowledge on this rare disease, we identified two unrelated…
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Keywords:
genetic spectrum;
clinical genetic;
scar32 functional;
characterization expansion ... See more keywords