KEGG   VARIANT: 845v1
Entry
845v1                      Variant                                 
Name
CASQ2 mutation
Type
Loss of function
Gene
CASQ2  calsequestrin 2 [KO:K23445]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114251
Network
nt06528  Calcium signaling
Disease
H01019  Catecholaminergic polymorphic ventricular tachycardia
Reference
PMID:32115705
  Authors
Wleklinski MJ, Kannankeril PJ, Knollmann BC
  Title
Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia.
  Journal
J Physiol 598:2817-2834 (2020)
DOI:10.1113/JP276757
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