Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.Q388fs
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SMAD4

NM_005359.6:p.Q388fs

Associated Papers

Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

Pearson M et al.

European Journal of Human Genetics : Ejhg, 2024

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