Article

Rare GATA6 variants associated with risk of congenital heart disease phenotypes in 200,000 UK Biobank exomes

2021-05-08

Abstract excerpt

Several genes have been associated with congenital heart disease (CHD) risk in previous GWAS and sequencing studies, but studies involving larger numbers of case samples remain needed to facilitate further understanding of what remains a complex and largely uncharacterised genetic etiology. Here we use whole exome sequencing data from 200,000 samples in the UK Biobank to assess ultra-rare and potentially pathogeni...

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Literature Corpus work: 814e4622-7963-52f0-9ac7-fc28f1ef2187
DOI: 10.1101/2021.05.04.21256616

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