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

Internet

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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