Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.C34S
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ACVRL1

NM_000020.3:p.C34S

Associated Papers

Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease).

Umemura H et al.

Acta Medica Okayama, 2020

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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."