Titin-truncating variants affect heart function in disease cohorts and the general population

Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ∼1% of the general population, where they may be silent, perhaps reflecting allelic factors. To better understand TTNtv, we integrated TTN allelic series, cardiac imaging and genomic data in...

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Váldodahkkit:	Schafer, S, de Marvao, A, Adami, E, Fiedler, LR, Ng, B, Khin, E, Rackham, OJL, van Heesch, S, Pua, CJ, Kui, M, Walsh, R, Tayal, U, Prasad, SK, Dawes, TJW, Ko, NSJ, Sim, D, Chan, LLH, Chin, CWL, Mazzarotto, F, Barton, PJ, Kreuchwig, F, de Kleijn, DPV, Totman, T, Biffi, C, Tee, N, Rueckert, D, Schneider, V, Faber, A, Regitz-Zagrosek, V, Seidman, JG, Seidman, CE, Linke, WA, Kovalik, J-P, O'Regan, D, Ware, JS, Hubner, N, Cook, SA
Materiálatiipa:	Journal article
Almmustuhtton:	Springer Nature 2016

Titin-truncating variants affect heart function in disease cohorts and the general population

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