Detection and discovery of repeat expansions in ataxia enabled by next-generation sequencing: present and future.

Emerg Top Life Sci · 2023 · PMC10754322 · PMID 37733280

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highly significantno p-value reported

This was discovered due to a well-powered linkage analysis and a highly significant GWAS hit at chromosome 9p21 for ALS [ 25 ] and FTD [ 26 ] which highlighted the genomic region requiring further examination.

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