Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.S333T
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SMAD6

NM_005585.5:p.S333T

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

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Calpena E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Heart-hand syndrome IV: a second family with LMNA-related cardiomyopathy and brachydactyly.

Zaragoza MV et al.

Clinical Genetics, 2017

27723096 (PubMed )
Supplement: CGE-91-499-s001.pdf
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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."