Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q249P
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SMAD4

NM_005359.6:p.Q249P

Associated Papers

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

Cao K et al.

Hereditary Cancer in Clinical Practice, 2023

Adenomatous Polyposis Phenotype in BMPR1A and SMAD4 Variant Carriers.

Rosner G et al.

Clinical and Translational Gastroenterology, 2022

Multi-platform molecular profiling of a large cohort of glioblastomas reveals potential therapeutic strategies.

Xiu J et al.

Oncotarget, 2016

26933808 (PubMed )
Supplement: oncotarget-07-21556-s001.pdf

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation.

Schwenter F et al.

Journal of Gastroenterology, 2012

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