2021
DOI: 10.3390/genes12050655
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Common Variation in Cytoskeletal Genes Is Associated with Conotruncal Heart Defects

Abstract: There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducte… Show more

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