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

Congenital heart disease (CHD) has a complex and largely uncharacterised genetic etiology. Using 200,000 UK Biobank (UKB) exomes, we assess the burden of ultra-rare, potentially pathogenic variants in the largest case/control cohort of predominantly mild CHD to date. We find an association with GATA...

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Detalles Bibliográficos
Autores principales:	Williams, Simon G., Byrne, Dominic J. F., Keavney, Bernard D.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Singapore 2021
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8786659/ https://www.ncbi.nlm.nih.gov/pubmed/34493817 http://dx.doi.org/10.1038/s10038-021-00976-0

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