The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort
Autor: | Dawson, Jessica, Kay, Chris, Black, Hailey Findlay, Bortnick, Stephanie, Javier, Kyla, Xia, Qingwen, Sandhu, Akshdeep, Buchanan, Christina, Hogg, Virginia, Chang, Florence C.F., Goto, Jun, Arning, Larissa, Saft, Carsten, Bijlsma, Emilia K., Nguyen, Huu P., Roxburgh, Richard, Hayden, Michael R. |
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Zdroj: | In Genetics in Medicine November 2024 26(11) |
Databáze: | ScienceDirect |
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