Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.C499R
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SMAD4

NM_005359.6:p.C499R

Associated Papers

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA et al.

American Journal of Human Genetics, 2024

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › SMAD4

A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.

Tan L et al.

Nature Communications, 2024

38418463 (PubMed )
Supplement: 41467_2024_46008_MOESM5_ESM.xlsx › Sheet1

Combined Focused Next-Generation Sequencing Assays to Guide Precision Oncology in Solid Tumors: A Retrospective Analysis from an Institutional Molecular Tumor Board.

Tarawneh TS et al.

Cancers, 2022

36139590 (PubMed )
Supplement: cancers-14-04430-s001.zip › Tarawneh_et_al_Supplementary_Table_S5.xlsx › Alterations

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Pancreatic Juice Mutation Concentrations Can Help Predict the Grade of Dysplasia in Patients Undergoing Pancreatic Surveillance.

Suenaga M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Comprehensive targeted super-deep next generation sequencing enhances differential diagnosis of solitary pulmonary nodules.

Ye M et al.

Journal of Thoracic Disease, 2018

Co-occurring Genomic Alterations and Association With Progression-Free Survival in BRAFV600-Mutated Nonmelanoma Tumors.

Sen S et al.

Journal of the National Cancer Institute, 2017

Differential clonal evolution in oesophageal cancers in response to neo-adjuvant chemotherapy.

Findlay JM et al.

Nature Communications, 2016

27045317 (PubMed )
Supplement: ncomms11111-s1.pdf

Molecular profiles of high-grade and low-grade pseudomyxoma peritonei.

Noguchi R et al.

Cancer Medicine, 2015

Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin.

Alakus H et al.

Genome Medicine, 2014

24944587 (PubMed )
Supplement: gm559-S1.pdf

Reporting tumor molecular heterogeneity in histopathological diagnosis.

Mafficini A et al.

Plos One, 2014

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

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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."