Published in
American Association for the Advancement of Science, Science Translational Medicine, 270(7), 2015
DOI: 10.1126/scitranslmed.3010134
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Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease
Journal article published in 2015 by
Angharad M. Roberts,
James S. Ware 
,
Daniel S. Herman,
Sebastian Schafer ,
John Baksi,
Alexander G. Bick,
Rachel J. Buchan ,
Roddy Walsh ,
Shibu John,
Samuel Wilkinson,
Francesco Mazzarotto,
Leanne E. Felkin,
Sungsam Gong,
Jacqueline A. L. MacArthur,
Fiona Cunningham
and other authors.
,
Daniel S. Herman,
Sebastian Schafer ,
John Baksi,
Alexander G. Bick,
Rachel J. Buchan ,
Roddy Walsh ,
Shibu John,
Samuel Wilkinson,
Francesco Mazzarotto,
Leanne E. Felkin,
Sungsam Gong,
Jacqueline A. L. MacArthur,
Fiona Cunningham
and other authors.
This paper is available in a repository.
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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.