Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.D348delFs
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ACVRL1

NM_000020.3:p.D348delFs

Associated Papers

Generation of patient-derived and gene-corrected hiPSC lines from Hereditary Hemorrhagic Telangiectasia type 2 patients with ACVRL1 c.1042delG mutation.

Urdaneta KE et al.

Stem Cell Research, 2025

Mutation analysis in Norwegian families with hereditary hemorrhagic telangiectasia: founder mutations in ACVRL1.

Heimdal K et al.

Clinical Genetics, 2016

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Letteboer TG et al.

Human Genetics, 2005

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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."