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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ACVRL1

Variant:p.S27insFs

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ACVRL1

NM_000020.3:p.S27insFs

hg38:chr12:51913117 C>CT

Associated Papers

Clinical features and mutations in the ENG, ACVRL1, and SMAD4 genes in Korean patients with hereditary hemorrhagic telangiectasia.

Lee ST et al.

Journal of Korean Medical Science, 2009

19270816 (PubMed )

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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."