2024
DOI: 10.1002/mds.30073
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A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank

Chris Clarkson,
Zhongbo Chen,
Clarissa Rocca
et al.

Abstract: BackgroundA CAG repeat expansion in THAP11 was recently found to be associated with spinocerebellar ataxia in two Chinese families. Expanded repeats ranged from 45 to 100 units, with CAA sequence interruptions in the 5′ region and an uninterrupted CAG tract in the 3′ tail.ObjectiveHere, we assess the population distribution of the THAP11 repeat, and its contribution to neurological diseases.MethodsWe interrogated data from 54,788 individuals from Genomics England, 10,686 patients from the UCL Queen Square Inst… Show more

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