The frequency and clinical impact of synonymous HTT loss-of-interruption and duplication-of-interruption variants in a diverse HD cohort.
Dawson J, Kay C, Black HF, Bortnick S, Javier K, Xia Q, Sandhu A, Buchanan C, Hogg V, Chang FCF, Goto J, Arning L, Saft C, Bijlsma EK, Nguyen HP, Roxburgh R, Hayden MR.
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Genet Med. 2024 Aug 10;26(11):101239. doi: 10.1016/j.gim.2024.101239. Online ahead of print.
Genet Med. 2024.
PMID: 39140258
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