ACMG | American College of Medical Genetics |
DMEM | Dulbecco’s modified Eagle’s medium |
DMT1 | divalent metal transporter 1 |
ECG | electrocardiogram |
gnomAD | genome Aggregation Database |
HBS | HEPES buffered saline |
HEK | human embryonic kidney |
K+ | potassium |
KChIP2/3 | K+ channel interacting protein 2 and 3 |
PBS | phosphate-buffered saline |
SCA19/22 | spinocerebellar ataxia type 19 and 22 |
UPenn | University of Pennsylvania |
WES | whole exome sequencing |
WT | wild-type |