Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.S483Splc
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SMAD4

NM_005359.6:p.S483Splc

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

Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia.

Schwenter F et al.

Journal of Pediatric Gastroenterology and Nutrition, 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."