Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.W524L
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SMAD4

NM_005359.6:p.W524L

Associated Papers

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Despas L et al.

Journal of Medical Genetics, 2025

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Model-based analysis uncovers mutations altering autophagy selectivity in human cancer.

Han Z et al.

Nature Communications, 2021

34059679 (PubMed )
Supplement: 41467_2021_23539_MOESM6_ESM.xlsx › Supplementary_Data_3

High Concordance of Genomic Profiles between Primary and Metastatic Colorectal Cancer.

Lee SE et al.

International Journal of Molecular Sciences, 2021

34074070 (PubMed )
Supplement: ijms-22-05561-s001.zip › ijms-1205781-supplementary.xlsx › Table_S1

Spatially interacting phosphorylation sites and mutations in cancer.

Huang KL et al.

Nature Communications, 2021

33875650 (PubMed )
Supplement: 41467_2021_22481_MOESM4_ESM.xlsx › TableS6.RecurrenceClusters

Targeted Next-Generation Sequencing Combined With Circulating-Free DNA Deciphers Spatial Heterogeneity of Resected Multifocal Hepatocellular Carcinoma.

Lin J et al.

Frontiers in Immunology, 2021

34211467 (PubMed )
Supplement: Table_1.xlsx › TableS2

Mucinous Histology, BRCA1/2 Mutations, and Elevated Tumor Mutational Burden in Colorectal Cancer.

Harpaz N et al.

Journal of Oncology, 2020

32377194 (PubMed )
Supplement: 6421205.f1.xlsx › TMB

Digital next-generation sequencing identifies low-abundance mutations in pancreatic juice samples collected from the duodenum of patients with pancreatic cancer and intraductal papillary mucinous neoplasms.

Yu J et al.

Gut, 2017

27432539 (PubMed )
Supplement: gutjnl-2015-311166supp001.pdf

Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.

Handra-Luca A et al.

American Journal of Medical Genetics. Part A, 2005

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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."