Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.E159*
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SMAD2

NM_005901.6:p.E159*

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

Prenatal characterization of a novel inverted SMAD2 duplication by mate pair sequencing in a fetus with dextrocardia.

Zepeda-Mendoza CJ et al.

Clinical Case Reports, 2021

33598243 (PubMed )
Supplement: CCR3-9-769-s002.xlsx › SupplementalTable3

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Wang Y et al.

Frontiers in Oncology, 2019

30886832 (PubMed )
Supplement: Table_2.xls › Table_2

Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Granadillo JL et al.

Human Mutation, 2018

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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."