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


Recommended citation: http://www.nature.com/ng/journal/v49/n1/abs/ng.3719.html

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,

Number of citations: 3