Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.G457R
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SMAD2

NM_005901.6:p.G457R

Associated Papers

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.

Ward T et al.

Journal of the American Heart Association, 2025

40028843 (PubMed )
Supplement: JAH3-14-e036860-s001.zip › jah310667-sup-0007-Tables.xlsx › Table_S1

Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype.

Cannaerts E et al.

Journal of Medical Genetics, 2019

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL et al.

Human Mutation, 2018

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D et al.

Human Mutation, 2018

Exome sequencing identified a novel SMAD2 mutation in a Chinese family with early onset aortic aneurysms.

Zhang W et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Micha D et al.

Human Mutation, 2015

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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."