Human gene copy number spectra analysis in congenital heart malformations
Abstract
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined...
Paper Details
Title
Human gene copy number spectra analysis in congenital heart malformations
Published Date
May 1, 2012
Journal
Volume
44
Issue
9
Pages
518 - 541
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