Associated Papers
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
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.
Stengl R et al.
Orphanet Journal of Rare Diseases, 2020
33059708 (PubMed )
Supplement: 13023_2020_1569_MOESM1_ESM.pdf
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