Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.T293insFs
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ACVRL1

NM_000020.3:p.T293insFs

Associated Papers

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.

Wehner LE et al.

Clinical Genetics, 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."