Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.V244F
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SMAD3

NM_005902.4:p.V244F

Associated Papers

Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?

Prendergast A et al.

Frontiers in Cardiovascular Medicine, 2025

Novel SMAD3 variant identified in a patient with familial aortopathy modeled using a zebrafish embryo assay.

Sheppard MB et al.

Frontiers in Cardiovascular Medicine, 2023

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