Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.C219R
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ACTA2

NM_001613.4:p.C219R

Associated Papers

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.

Calderan C et al.

European Journal of Human Genetics : Ejhg, 2024

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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."