KEGG   VARIANT: 5350v2
Entry
5350v2                      Variant                                
Name
PLN gain-of-function mutation
Type
Gain of function
Gene
PLN  phospholamban [KO:K05852]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 172405
Network
nt06528  Calcium signaling
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:12705874
  Authors
Minamisawa S, Sato Y, Tatsuguchi Y, Fujino T, Imamura S, Uetsuka Y, Nakazawa M, Matsuoka R
  Title
Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy.
  Journal
Biochem Biophys Res Commun 304:1-4 (2003)
DOI:10.1016/s0006-291x(03)00526-6
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