Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.D537V
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SMAD4

NM_005359.6:p.D537V

Associated Papers

Arteriovenous malformation from a patient with JP-HHT harbours two second-hit somatic DNA alterations in SMAD4.

DeBose-Scarlett E et al.

Journal of Medical Genetics, 2025

Comprehensive genomic characterization of sporadic synchronous colorectal cancer: Implications for treatment optimization and clinical outcome.

Yang LP et al.

Cell Reports. Medicine, 2023

37794586 (PubMed )
Supplement: mmc4.xlsx › TCGA_path_oncokb

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Mamlouk S et al.

Nature Communications, 2017

28120820 (PubMed )
Supplement: ncomms14093-s2.xlsx › inter-tumor_cohort_filtered
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