Associated Papers
Computational and Experimental Analyses for Pathogenicity Prediction of ACVRL1 Missense Variants in Hereditary Hemorrhagic Telangiectasia.
Iwasa T et al.
Journal of Clinical Medicine, 2023
Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry.
Sánchez-Martínez R et al.
Orphanet Journal of Rare Diseases, 2020
ALK1 Loss Results in Vascular Hyperplasia in Mice and Humans Through PI3K Activation.
Alsina-Sanchís E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2018
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Machado RD et al.
Human Mutation, 2015
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