Publications:

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

Genetic Epidemiology

Helle, Emmi E; Córdova-Palomera, Aldo A; Ojala, Tiina T; Saha, Priyanka P; Potiny, Praneetha P; Gustafsson, Stefan S; Ingelsson, Erik E; Bamshad, Michael M; Nickerson, Deborah D; Chong, Jessica X JX; , ; Ashley, Euan E; Priest, James R JR

Publication Date: 2019-03

Variant appearance in text: NOTCH1: 1650_1651insA

PubMed Link: 30511478

Variant Present in the following documents:

• Main text

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