Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.H249_M255delFs
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SMAD3

NM_005902.4:p.H249_M255delFs

Associated Papers

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Hostetler EM et al.

Journal of Medical Genetics, 2019

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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."