Article
Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.
Circulation. Genomic and precision medicine - 1 Aug 2022
Carruth Eric D, Qureshi Maria, Alsaid Amro, Kelly Melissa A, Calkins Hugh, Murray Brittney, Tichnell Crystal, Sturm Amy C, Baras Aris, Lester Kirchner H, Fornwalt Brandon K, James Cynthia A, Haggerty Christopher M
Abstract excerpt
BACKGROUND: The FLNC gene has recently garnered attention as a likely cause of arrhythmogenic cardiomyopathy, which is considered an actionable genetic condition. However, the association with disease in an unselected clinical population is unknown. We hypothesized that individuals with loss-of-function variants in FLNC (FLNCLOF) would have increased odds for arrhythmogenic cardiomyopathy-associated phenotypes...
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