Prevalence, Penetrance, and Phenotypic Manifestation of Cardiomyopathy-Associated Genetic Variants in the General Population: Insights from a Mayo Clinic Biobank Study

Autor: Figueiral, Marta, Paldino, Alessia, Wilke, Matheus Vernet Machado Bressan, Farris, Joseph D., Verheijen, Jan, Giudicessi, John R., Ackerman, Michael J., Olson, Janet E., Arroyo, Jennifer, Olson, Rory J., Klee, Eric W., Pereira, Naveen L.
Zdroj: Mayo Clinic Proceedings; 20240101, Issue: Preprints
Abstrakt: To determine the prevalence, penetrance, and disease expression of cardiomyopathy-related genetic variants in an unselected, richly phenotyped Mayo Clinic population in the setting of preemptive sequencing, with return of incidental findings following the American College of Medical Genetics and Genomics recommendations.
Databáze: Supplemental Index