Varaico: Literature-Extracted Genetic Variants

Gene:SMAD6
Variant:p.L191P
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SMAD6

NM_005585.5:p.L191P

Associated Papers

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

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Shen F et al.

Molecular Genetics & Genomic Medicine, 2022

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.

Musfee FI et al.

Molecular Genetics & Genomic Medicine, 2020

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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."