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Paper Details

Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts.
Genet Epidemiol
18
2019
LVOTO, NOTCH1, NOTCH1 variants, hypoplastic left heart syndrome, individual variants, intronic variants, left ventricular outflow tract obstructive defects, left ventricular outflow tract obstructive heart defects, missense variants, rare intronic variants
Author NameAffiliation
Priyanka SahaStanford University School of Medicine
Praneetha PotinyStanford University School of Medicine
Stefan GustafssonUppsala University
Stefan GustafssonUppsala University
Erik IngelssonStanford University School of Medicine
Erik IngelssonUppsala University
Erik IngelssonStanford University School of Medicine
Erik IngelssonUppsala University
Michael J BamshadUniversity of Washington
Michael J BamshadSeattle Children's Hospital
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadUniversity of Washington
Michael J BamshadSeattle Children's Hospital
Deborah A NickersonUniversity of Washington
Deborah A NickersonUniversity of Washington
Jessica X ChongUniversity of Washington
Jessica X ChongUniversity of Washington
Euan A AshleyStanford University School of Medicine
James R PriestStanford University School of Medicine
James R PriestStanford University School of Medicine
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Release 1.2