Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
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Front Neurol. 2023 May 18;14:1170005. doi: 10.3389/fneur.2023.1170005. eCollection 2023.
Front Neurol. 2023.
PMID: 37273706
Free PMC article.