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Loss of function, missense, and intronic variants in <i>NOTCH1</i> confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts

2017-11-07

Abstract excerpt

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO) in a small percentage of families. Clinical surveys report an increased prevalence of missense variants in NOTCH1 in family members of individuals with LVOTO and other types of congenital heart disease (CHD). However, the risk conferred by rare variants in NOTCH1 for LVOTO remains largely uncharacterized. In a c...

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Literature Corpus work
9555c593-16e5-5c52-b1b8-18a12b26cbf0
DOI
10.1101/215301
Open publication

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