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

被引:0
|
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
来源
Journal of Translational Medicine | / 20卷
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;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
相关论文
共 1 条
  • [1] 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
    Poninska, Joanna Kinga
    Bilinska, Zofia Teresa
    Truszkowska, Grazyna
    Michalak, Ewa
    Podgorska, Anna
    Stepien-Wojno, Malgorzata
    Chmielewski, Przemyslaw
    Lutynska, Anna
    Ploski, Rafal
    JOURNAL OF TRANSLATIONAL MEDICINE, 2022, 20 (01)