Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
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Authors
Angharad Roberts
Angharad Roberts•James Ware•Stuart Cook
Published
January 14, 2015
Abstract
Truncating variants of the giant protein titin cause dilated cardiomyopathy when they occur toward the protein’s carboxyl terminus and in highly expressed exons.