Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L364W
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SMAD4

NM_005359.6:p.L364W

Associated Papers

Mutation patterns in colorectal cancer and their relationship with prognosis.

Su Z et al.

Heliyon, 2024

39263143 (PubMed )
Supplement: mmc1.xlsx › Tabelle1

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling.

Higuchi R et al.

Jto Clinical and Research Reports, 2021

34877557 (PubMed )
Supplement: mmc2.pdf

Targeted Next-Generation Sequencing Validates the Use of Diagnostic Biopsies as a Suitable Alternative to Resection Material for Mutation Screening in Colorectal Cancer.

Ham-Karim HA et al.

Molecular Diagnosis & Therapy, 2019

Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

Wong SQ et al.

British Journal of Cancer, 2015

25742471 (PubMed )
Supplement: bjc201580x7.xls › Supp_Table_3

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Caputo V et al.

American Journal of Human Genetics, 2012

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Gallione C et al.

American Journal of Medical Genetics. Part A, 2010

Mutation screening in juvenile polyposis syndrome.

Pyatt RE et al.

The Journal of Molecular Diagnostics : Jmd, 2006

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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."