Article

<i>TTN</i> truncating variants in hiPSI exons show high penetrance for cardiomyopathy in carriers with atrial fibrillation

2022-06-06

Abstract excerpt

<h4>Background</h4> Truncating variants in TTN ( TTN tvs) represent the largest known genetic cause of dilated cardiomyopathies (DCM). At the population level, even when limited to TTN tvs in cardiac-specific exons (hiPSI TTN tvs) penetrance estimates for DCM are low. Recent work shows that individuals harboring TTN tvs have a high prevalence of other cardiac conditions aside from heart failure, in particular, atr...

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Literature Corpus work: ac121e8c-30eb-5766-be97-403d85aad098
DOI: 10.1101/2022.06.06.22276058

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