Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.W101*
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SMAD4

NM_005359.6:p.W101*

Associated Papers

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Next-Generation Sequencing Identifies Potential Actionable Targets in Paediatric Sarcomas.

Juan Ribelles A et al.

Journal of Personalized Medicine, 2021

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

Cagdas D et al.

Journal of Clinical Immunology, 2018

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.

Gallione C et al.

American Journal of Medical Genetics. Part A, 2010

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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."