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

Mayo Clinic proceedings - 1 Nov 2024

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

Abstract excerpt

OBJECTIVE: 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. PATIENTS AND METHODS: We analyzed a quaternary medical center-based biobank cohort...

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PMID: 39387793
DOI: 10.1016/j.mayocp.2024.05.027

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