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POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking.

Schindler RF, Scotton C, Zhang J, Passarelli C, Ortiz-Bonnin B, Simrick S, Schwerte T, Poon KL, Fang M, Rinne S, Froese A, Nikolaev VO, Grunert C, Muller T, Tasca G, Sarathchandra P, Drago F, Dallapiccola B, Rapezzi C, Arbustini E, Di Raimo FR, Neri M, Selvatici R, Gualandi F, Fattori F, Pietrangelo A, Li W, Jiang H, Xu X, Bertini E, Decher N, Wang J, Brand T, Ferlini A
J Clin Invest. 2016 Jan;126(1):239-53. doi: 10.1172/JCI79562. Epub 2015 Dec 7. (Link opens in a new window) PubMed (Link opens in a new window) Article

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