Article

Deleterious genetic variants in <i>NOTCH1</i> are a major contributor to the incidence of non-syndromic Tetralogy of Fallot

2018-04-13

Abstract excerpt

<h4>Aims</h4> Familial recurrence studies provide strong evidence for a genetic component to the predisposition to sporadic, non-syndromic Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease (CHD) phenotype. Rare genetic variants have been identified as important contributors to the risk of CHD, but relatively small numbers of TOF cases have been studied to date. Here, we use whole exome...

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Literature Corpus work: 7acb83e7-075e-51c4-b54a-8f3dfd7d9554
DOI: 10.1101/300905

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