A missense variation in PHACTR2 associates with impaired actin dynamics, dilated cardiomyopathy, and left ventricular non-compaction in humans

A missense variation in PHACTR2 associates with impaired actin dynamics, dilated cardiomyopathy, and left ventricular non-compaction in humans. International Journal of Molecular Sciences 2023. Article link. Otogenetics Laboratory performed Exome sequencing that identified the novel genetic variation.