Varaico: Literature-Extracted Genetic Variants

Gene:SMAD4
Variant:p.L484L
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SMAD4

NM_005359.6:p.L484L

Associated Papers

Founder Effects in Hereditary Hemorrhagic Telangiectasia.

Major T et al.

Journal of Clinical Medicine, 2021

Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients.

Lesca G et al.

European Journal of Human Genetics : Ejhg, 2008

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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."