Congenital Heart Defects Due to TAF1 Missense Variants
نویسندگان
چکیده
منابع مشابه
Rare variants in NR2F2 cause congenital heart defects in humans.
Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five...
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ژورنال
عنوان ژورنال: Circulation: Genomic and Precision Medicine
سال: 2020
ISSN: 2574-8300
DOI: 10.1161/circgen.119.002843