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Identification of Rare Copy Number Variants Associated With Pulmonary Atresia With Ventricular Septal Defect

28 Jan 2019

Abstract excerpt

Copy number variants (CNVs) are major variations contributing to the gene heterogeneity of congenital heart diseases (CHD). pulmonary atresia with ventricular septal defect (PA-VSD) is a rare form of cyanotic CHD characterized by complex manifestations and the genetic determinants underlying PA-VSD are still largely unknown. We investigated rare CNVs in a recruited cohort of 100 unrelated patients with PA-VSD,...

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PMID: 30745907
DOI: 10.3389/fgene.2019.00015

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