Detalhe da pesquisa
1.
An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family.
Clin Genet
; 103(6): 704-708, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36861389
2.
Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease.
Circ Genom Precis Med
; 15(6): e003707, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350761