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The Frequency and Clinical Impact of Synonymous HTT Loss-of-Interruption and Duplication-of-interruption Variants in a Diverse HD Cohort

Jessica Dawson,Chris Kay,Hailey Findlay Black, Stephanie Bortnick, Kyla Javier,Qingwen Xia,Akshdeep Sandhu,Christina Buchanan,Virginia Hogg,Florence C. F. Chang,Jun Goto,Larissa Arning,Carsten Saft,Emilia K. Bijlsma,Huu P. Nguyen,Richard Roxburgh,Michael R. Hayden

GENETICS IN MEDICINE（2024）

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关键词
Clinical impact,Diverse cohort,Genetic modi fi ers,Huntington disease,Loss of interruption
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