Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.H278insFs
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ACVRL1

NM_000020.3:p.H278insFs

Associated Papers

Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia and expression analysis of Endoglin and ALK1.

Fernandez-L A et al.

Human Mutation, 2006

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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."