Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.G358insFs
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SMAD4

NM_005359.6:p.G358insFs

Associated Papers

Development of a functional assay for the characterisation of SMAD4 variants from the French haemorrhagic hereditary telangiectasia cohort.

Despas L et al.

Journal of Medical Genetics, 2025

Phenotypic characterisation of SMAD4 variant carriers.

Caillot C et al.

Journal of Medical Genetics, 2024

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