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
Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia.
Kitayama K et al.
Bmc Medical Genomics, 2021
34872578 (PubMed )
Supplement: 12920_2021_1139_MOESM1_ESM.xlsx › ACVRL1
Functional analysis of endoglin mutations from hereditary hemorrhagic telangiectasia type 1 patients reveals different mechanisms for endoglin loss of function.
Mallet C et al.
Human Molecular Genetics, 2015
Hereditary hemorrhagic telangiectasia in Japanese patients.
Komiyama M et al.
Journal of Human Genetics, 2014
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