Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.L480F
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ACVRL1

NM_000020.3:p.L480F

Associated Papers

Structural basis for ALK2/BMPR2 receptor complex signaling through kinase domain oligomerization.

Agnew C et al.

Nature Communications, 2021

34400635 (PubMed )
Supplement: 41467_2021_25248_MOESM1_ESM.pdf

Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2).

McDonald J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Olivieri C et al.

Journal of Human Genetics, 2007

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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."