KEGG   VARIANT: 1824v1
Entry
1824v1                      Variant                                
Name
DSC2 mutation
Type
Loss of function
Gene
DSC2  desmocollin 2 [KO:K07601]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125645
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
Reference
PMID:21062920
  Authors
Gehmlich K, Syrris P, Peskett E, Evans A, Ehler E, Asimaki A, Anastasakis A, Tsatsopoulou A, Vouliotis AI, Stefanadis C, Saffitz JE, Protonotarios N, McKenna WJ
  Title
Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.
  Journal
Cardiovasc Res 90:77-87 (2011)
DOI:10.1093/cvr/cvq353
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