Varaico: Literature-Extracted Genetic Variants

Gene:ACVRL1
Variant:p.R484L
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ACVRL1

NM_000020.3:p.R484L

Associated Papers

Imaging manifestations of hereditary hemorrhagic telangiectasia with pulmonary arterial hypertension: a case report.

Qin G et al.

Frontiers in Cardiovascular Medicine, 2025

40190465 (PubMed )
Supplement: Table2.pdf

Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia.

Iwasa T et al.

Journal of Clinical Medicine, 2023

Pulmonary Hypertension and Hereditary Hemorrhagic Telangiectasia Related to an ACVRL1 Mutation.

Yokokawa T et al.

Internal Medicine (tokyo, Japan), 2020

Identification of rare sequence variation underlying heritable pulmonary arterial hypertension.

Gräf S et al.

Nature Communications, 2018

29650961 (PubMed )
Supplement: 41467_2018_3672_MOESM2_ESM.xlsx › Suppl._Dataset_2
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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."