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Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ, Lentino AR, Kapplinger JD, Ye D, Zhou W, Tester DJ, Ackerman MJ. Clemens DJ, et al. Among authors: zhou w. Heart Rhythm. 2018 Apr;15(4):555-561. doi: 10.1016/j.hrthm.2017.11.032. Epub 2017 Dec 2. Heart Rhythm. 2018. PMID: 29197658 Free PMC article.
Utilization of the genome aggregation database, in silico tools, and heterologous expression patch-clamp studies to identify and demote previously published type 2 long QT syndrome: Causative variants from pathogenic to likely benign.
Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR, Ackerman MJ. Mattivi CL, et al. Among authors: zhou w. Heart Rhythm. 2020 Feb;17(2):315-323. doi: 10.1016/j.hrthm.2019.08.014. Epub 2019 Sep 5. Heart Rhythm. 2020. PMID: 31493592
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