Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.R373H
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SMAD3

NM_005902.4:p.R373H

Associated Papers

Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.

Domenico D et al.

Nature Communications, 2025

41309586 (PubMed )
Supplement: 41467_2025_65654_MOESM3_ESM.xlsx › Supplementary_Data_4

Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.

Basyuni S et al.

Nature Communications, 2024

39231944 (PubMed )
Supplement: 41467_2024_51577_MOESM13_ESM.xlsx › Oxford_cohort

Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Zhang L et al.

Molecular Oncology, 2022

35971249 (PubMed )
Supplement: MOL2-16-3689-s003.xlsx › Table_S2

Genetic profiling and cardiovascular phenotypic spectrum in a Chinese cohort of Loeys-Dietz syndrome patients.

Yang H et al.

Orphanet Journal of Rare Diseases, 2020

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).

Arnaud P et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.

Hostetler EM et al.

Journal of Medical Genetics, 2019

Genetic alterations of the TGF-beta signaling pathway in colorectal cancer cell lines: a novel mutation in Smad3 associated with the inactivation of TGF-beta-induced transcriptional activation.

Ku JL et al.

Cancer Letters, 2007

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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."