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In page Ataxia–telangiectasia:

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Non-canonical variants such as the insertion of a retrotransposon, which had not been studied until a few years ago, actually appear to have therapeutic implications in the development of Ataxia-telangiectasia. A recent study investigated this issue using NGS sequencing techniques and in vitro studies in a cohort of 235 AT patients from the Boston Children's Hospital. The study demonstrated that insertions of retroelements in the ATM gene are the cause of the disease in 5.5% of patients and that insertions occur in non-coding regions in 92.3% of cases.[citation needed]