Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.A532delFs
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SMAD4

NM_005359.6:p.A532delFs

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

MMR deficiency is frequent in colorectal carcinomas with diffuse SLFN11 immunostaining: clinicopathologic and molecular study of 31 cases identified among 3,300 tumors.

Kaczorowski M et al.

The Journal of Pathology. Clinical Research, 2025

40105034 (PubMed )
Supplement: CJP2-11-e70025-s003.xlsx › Table_S2

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma.

Ma K et al.

Cancers, 2022

36291846 (PubMed )
Supplement: cancers-14-05062-s001.zip › Supplementary_Tables.xlsx › Table_S3

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Abdalla SA et al.

Journal of Medical Genetics, 2006

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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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."