<i>DAG1</i> haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia

European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01516-4

DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia