Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.E390K
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SMAD4

NM_005359.6:p.E390K

Associated Papers

Clinical relevance of the somatic mutational landscaping in predicting outcome of bladder cancer patients.

Nedjadi T et al.

Scientific Reports, 2025

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Evaluating Cancer of the Central Nervous System Through Next-Generation Sequencing of Cerebrospinal Fluid.

Pentsova EI et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2016

27161972 (PubMed )
Supplement: supp_JCO.2016.66.6487_DS_2016.666487.xlsx › SNV__Indels

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

Caputo V et al.

American Journal of Human Genetics, 2012

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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."