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Missense Variants in the Spectrin Repeat Domain of DSP Are Associated with Arrhythmogenic Cardiomyopathy: A Family Report and Systematic Review

Steffany Grondin, Avedis-Christ Wazirian,Paloma Jorda, Donato G. Terrone, Johannie Gagnon,Laura Robb,Julie Amyot,Lena Rivard,Sylvain Page,Mario Talajic,Julia Cadrin-Tourigny,Rafik Tadros

American journal of medical genetics Part A（2020）

Cited 5|Views1
Key words
cardiomyopathy,desmoplakin,missense variant,spectrin repeat domain,sudden cardiac death
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