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

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作者
Joanna Kinga Ponińska
Zofia Teresa Bilińska
Grażyna Truszkowska
Ewa Michalak
Anna Podgórska
Małgorzata Stępień-Wojno
Przemysław Chmielewski
Anna Lutyńska
Rafał Płoski
机构
[1] National Institute of Cardiology,Department of Medical Biology
[2] National Institute of Cardiology,Unit for Screening Studies in Inherited Cardiovascular Diseases
[3] Medical University of Warsaw,Department of Medical Genetics, Centre of Biostructure
关键词
Thoracic aortic aneurysm and dissections; Next-generation sequencing; Genetic variant classification; Recommendations of American College of Medical Genetics and Genomics/Association for Molecular for Molecular Pathology;
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