Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.R380Splc
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SMAD4

NM_005359.6:p.R380Splc

Associated Papers

Clinical and Molecular Characterization of SMAD4 Splicing Variants in Patients with Juvenile Polyposis Syndrome.

Forte G et al.

International Journal of Molecular Sciences, 2024

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer.

Viel A et al.

Ebiomedicine, 2017

28551381 (PubMed )
Supplement: mmc7.pdf
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