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Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

4 Jan 2022

Abstract excerpt

BACKGROUND: The belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Although some studies have focused on the genetic testing of foetuses with CHD in China, the genotype-phenotype relationship has not yet been fully established, and hotspot copy number variations (CNVs) related to CHD in the Chinese population are still unclear. This...

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PMID: 34983622
DOI: 10.1186/s13023-021-02167-8

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