Varaico: Literature-Extracted Genetic Variants

Gene:HEY2
Variant:p.L68S
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HEY2

NM_012259.3:p.L68S

Associated Papers

A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot.

Bergès C et al.

European Journal of Human Genetics : Ejhg, 2025

Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms.

van Walree ES et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."