Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.Y88C
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ACVRL1

NM_000020.3:p.Y88C

Associated Papers

Molecular mechanisms and clinical manifestations of hereditary hemorrhagic telangiectasia.

Yuan J et al.

Thrombosis Research, 2024

Liver involvement in a hereditary hemorrhagic telangiectasia patient with Gd-EOB-DTPA enhanced MRI: a case description.

Jiang J et al.

Quantitative Imaging in Medicine and Surgery, 2022

Novel mutation c.263A>G in the ACVRL1 gene in a Japanese patient with hereditary hemorrhagic telangiectasia 2.

Yaginuma A et al.

The Journal of Dermatology, 2019

Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.

Townson SA et al.

The Journal of Biological Chemistry, 2012

Bioinformatic analysis of pathogenic missense mutations of activin receptor like kinase 1 ectodomain.

Scotti C et al.

Plos One, 2011

Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations.

Gedge F et al.

The Journal of Molecular Diagnostics : Jmd, 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."