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

NATURE GENETICS(2016)

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摘要
Stuart Cook and colleagues study the role of TTN (titin)-truncating variants using a combination of heart physiology experiments in rats and genomic analysis in humans. Their data show that TTN variants are associated with a range of cardiac phenotypes in healthy individuals and in patients with dilated cardiomyopathy.
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关键词
Cardiomyopathies,Clinical genetics
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