Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.N280K
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SMAD3

NM_005902.4:p.N280K

Associated Papers

Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

Laterza D et al.

European 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."