Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.G433S
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SMAD6

NM_005585.5:p.G433S

Associated Papers

Implications of monogenic bicuspid aortic valve (BAV) forms among sporadic BAV patients.

Bruenger CMH et al.

European Journal of Human Genetics : Ejhg, 2025

40646242 (PubMed )
Supplement: 41431_2025_1909_MOESM2_ESM.xlsx › ST2

Pathogenic SMAD6 variants in patients with idiopathic and complex congenital heart disease associated pulmonary arterial hypertension.

Karl S 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."