Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.H382_Q388del0
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SMAD4

NM_005359.6:p.H382_Q388del0

Associated Papers

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene.

Kang B et al.

Translational Pediatrics, 2021

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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."