Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.N280Y
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SMAD3

NM_005902.4:p.N280Y

Associated Papers

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.

Murdock DR et al.

Npj Genomic Medicine, 2025

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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."