Associated Papers
A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
Calderan C et al.
European Journal of Human Genetics : Ejhg, 2024
Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.
Yagyu T et al.
Journal of the American Heart Association, 2023
37042257 (PubMed )
Supplement: JAH3-12-e028625-s001.pdf
Good performance of the criteria of American College of Medical Genetics and Genomics/Association for Molecular Pathology in prediction of pathogenicity of genetic variants causing thoracic aortic aneurysms and dissections.
Ponińska JK et al.
Journal of Translational Medicine, 2022
35078481 (PubMed )
Supplement: 12967_2022_3251_MOESM1_ESM.pdf
Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.
Guo J et al.
Scientific Reports, 2015
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