Associated Papers
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
Loss of function SMAD4 nonstop mutations in human cancer.
Bauer AH et al.
Histopathology, 2023
Presentation of potential genes and deleterious variants associated with non-syndromic hearing loss: a computational approach.
Ray M et al.
Genomics & Informatics, 2022
Whole-Exome Sequencing Could Distinguish Primary Pulmonary Squamous Cell Carcinoma From Lung Metastases in Individuals With Cervical Squamous Cell Carcinoma.
Li L et al.
Pathology Oncology Research : Por, 2022
35645619 (PubMed )
Supplement: DataSheet1.xlsx › Supptable_3_driver_mutation_
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
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
Targeted sequencing reveals distinct pathogenic variants in Chinese patients with lung adenocarcinoma brain metastases.
Ma Y et al.
Oncology Letters, 2018
Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
Han SW et al.
Plos One, 2013
23700467 (PubMed )
Supplement: pone.0064271.s004.xlsx › Sheet1
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
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
Gallione CJ et al.
Lancet (london, England), 2004
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