Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.G32delFs
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SMAD6

NM_005585.5:p.G32delFs

Associated Papers

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

Karl S et al.

Npj Genomic Medicine, 2025

40133303 (PubMed )
Supplement: 41525_2025_484_MOESM1_ESM.pdf

SMAD6-deficiency in human genetic disorders.

Luyckx I et al.

Npj Genomic Medicine, 2022

36414630 (PubMed )
Supplement: 41525_2022_338_MOESM2_ESM.xlsx › Suppl_Table1

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

32499606 (PubMed )
Supplement: 41436_2020_817_MOESM3_ESM.xlsx › Table_S2
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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."