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Article

Next-generation sequencing identifies novel genes with rare variants in total anomalous pulmonary venous connection

15 Nov 2018

Abstract excerpt

BACKGROUND: Total anomalous pulmonary venous connection (TAPVC) is recognized as a rare congenital heart defect (CHD). With a high mortality rate of approximately 80%, the survival rate and outcomes of TAPVC patients are not satisfactory. However, the genetic aetiology and mechanism of TAPVC remain elusive. This study aimed to investigate the underlying genomic risks of TAPVC through next-generation sequencing...

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PMID: 30448225
DOI: 10.1016/j.ebiom.2018.11.008

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