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Copy number variant analysis for syndromic congenital heart disease in the Chinese population

31 Oct 2022

Abstract excerpt

BACKGROUND: Syndromic congenital heart disease (CHD) is among the most severe conditions in the pediatric population. Copy number variant (CNV) is an important cause of syndromic CHD, but few studies focused on CNVs related to these patients in China. The present study aimed to identify pathogenic CNVs associated with syndromic CHD in the Chinese population. METHODS: A total of 109 sporadic patients with...

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PMID: 36316717
DOI: 10.1186/s40246-022-00426-8

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