Genetic & Genomic MedicinemedRxivPreprint
Toward Precision Medicine in Aortopathies: Genetic Insights from a Brazilian Cohort Through Targeted Next-Generation Sequencing
Juliana R. Ferreira, Júlia Passarelli Pereira, Anna Paula Arpini Botelho…·Glauber Monteiro Dias
This study uses targeted next-generation sequencing to identify genetic variants in a Brazilian cohort with thoracic aortic diseases, finding pathogenic variants in key genes and highlighting the diagnostic yield for syndromic cases.
DOI 10.1101/2023.12.22.23300140