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

Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and non-coding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49 families affected by hypoplastic left heart syndrome, a severe form...

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Detalhes bibliográficos
Publicado no:Genet Epidemiol
Main Authors: Helle, Emmi, Córdova-Palomera, Aldo, Ojala, Tiina, Saha, Priyanka, Potiny, Praneetha, Gustafsson, Stefan, Ingelsson, Erik, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Ashley, Euan, Priest, James R
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6375786/
https://ncbi.nlm.nih.gov/pubmed/30511478
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/gepi.22176
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