Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.T372fs
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ACVRL1

NM_000020.3:p.T372fs

Associated Papers

ALK1-BMPRII agonism by clustering bispecific antibodies treats hereditary hemorrhagic telangiectasia.

Qutaina S et al.

Biorxiv : the Preprint Server for Biology, 2025

Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.

Giraud S et al.

Orphanet Journal of Rare Diseases, 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."