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

BACKGROUND: The identification of pathogenic variant in patients with thoracic aortic aneurysms and dissections (TAAD) was previously found to be a significant indicator pointing to earlier need for surgical intervention. In order to evaluate available methods for classifying identified genetic vari...

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Detalles Bibliográficos
Autores principales: Ponińska, Joanna Kinga, Bilińska, Zofia Teresa, Truszkowska, Grażyna, Michalak, Ewa, Podgórska, Anna, Stępień-Wojno, Małgorzata, Chmielewski, Przemysław, Lutyńska, Anna, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787943/
https://www.ncbi.nlm.nih.gov/pubmed/35078481
http://dx.doi.org/10.1186/s12967-022-03251-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8787943/
https://www.ncbi.nlm.nih.gov/pubmed/35078481
http://dx.doi.org/10.1186/s12967-022-03251-8

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