Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.I276_Y279delFs
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ACVRL1

NM_000020.3:p.I276_Y279delFs

Associated Papers

Hereditary Hemorrhagic Telangiectasia with Recurrent Epistaxis, Telangiectasia, Hepatic Arteriovenous Malformation, and a Poorly Developed Middle Cerebral Artery in a Patient with a Novel Mutation in the ACVRL1 Gene.

Miki T et al.

Internal Medicine (tokyo, Japan), 2025

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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."