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Whole-exome sequencing identifies a novel mutation in GATA4 gene to be congenital heart defects and arrhythmia in a Chinese family

2020-02-21

Abstract excerpt

<title>Abstract</title> <p>Background: CHD which contains congenital heart or great vessel structural defects is one of the major birth defects in the world. GATA4 is one of the most widely investigated genes in CHD, with over 100 known mutation sites. Most mutations in the GATA4 gene are related to the structural heart defect. <h4>Methods:</h4> 5 patients in this family were enrolled in this study. Punctilious r...

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Literature Corpus work
00e3b01a-6db2-5e00-83f5-e8b50aa5e2eb
DOI
10.21203/rs.2.24189/v1
Open publication

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Whole-exome sequencing identifies a novel mutation in GATA4 gene to be congenital heart defects and arrhythmia in a Chinese familyDOI 10.21203/rs.2.24189/v1
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