Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.R130*
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SMAD2

NM_005901.6:p.R130*

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

Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.

López Rivera JJ et al.

Journal of Personalized Medicine, 2024

39338229 (PubMed )
Supplement: jpm-14-00975-s001.zip › SUPPLEMENTARY_DATA.xlsx › Table_S2

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.

Ross JS et al.

Cancer, 2018

29338072 (PubMed )
Supplement: CNCR-124-1358-s002.xlsx › Rectum

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

23139211 (PubMed )
Supplement: 00085472can122706-sup-t1-8_xls_117k.xls › Table_S4

Molecular dimensions of gastrointestinal tumors: some thoughts for digestion.

Cohen MM

American Journal of Medical Genetics. Part A, 2003

Hypoplastic Right Ventricle Caused by a Novel SMAD2 Variant Identified in the First Trimester: A Case Report.

Yang YD et al.

Journal of Medical Ultrasound, 0

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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."