A human FLII gene variant alters sarcomeric actin thin filament length and predisposes to cardiomyopathy

Abstract excerpt

To better understand the genetic basis of heart disease, we identified a variant in the Flightless-I homolog ( FLII ) gene that generates a R1243H missense change and predisposes to cardiac remodeling across multiple previous human genome-wide association studies (GWAS). Since this gene is of unknown function in the mammalian heart we generated gain- and loss-of-function genetically altered mice, as well as...

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