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. 2021 Jul 31;22(15):8247. doi: 10.3390/ijms22158247
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