Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.S467L
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SMAD2

NM_005901.6:p.S467L

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

Emerging BRAF Mutations in Cancer Progression and Their Possible Effects on Transcriptional Networks.

Śmiech M et al.

Genes, 2020

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

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

Schepers D et al.

Human Mutation, 2018

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S3.xls › Table_S11
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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."