Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant.
Edgar T HoorntjeCharlotte BurnsLuisa MarsiliBen CordenVictoria N ParikhGerard J Te MeermanBelinda GrayAhmet AdiyamanRichard Douglas BagnallDaniela Q C M Barge-SchaapveldMaarten P van den BergMarianne BootsmaLaurens P BosmanGemma CorrentiJohan DuflouRuben N EppingaDiane FatkinMichael FietzEric A HaanJan D H JongbloedArnaud D HauerLien LamFreyja H M van LintAmrit S LotaCarlo L MarcelisHugh J McCarthyAnneke M van MilRogier A OldenburgNicholas PachterR Nils PlankenNicolette ChunChristopher SemsarianJasper J van der SmagtTina ThompsonJitendra VohraPaul G A VoldersJaap I van WaningNicola WhiffinArthur van den WijngaardAhmad S AminArthur A M WildeGijs van WoerdenLaura YeatesDominica ZentnerEuan A AshleyMatthew T WheelerJames Simon Warevan J Peter TintelenJodie InglesPublished in: Circulation. Genomic and precision medicine (2022)
tv, we demonstrate that variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow for precision-based clinical management.
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