Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q516_S517insFs
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SMAD4

NM_005359.6:p.Q516_S517insFs

Associated Papers

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

The patient with multiple intestinal polyps.

Schulmann K et al.

Best Practice & Research. Clinical Gastroenterology, 2007

Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers.

Friedl W et al.

Human Genetics, 2002

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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."