KEGG   VARIANT: 7137v2
Entry
7137v2                      Variant                                
Name
TNNI3 mutation
Type
Gain of function
Gene
TNNI3  troponin I3, cardiac type [KO:K12044]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191044
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
Reference
PMID:10806205
  Authors
Elliott K, Watkins H, Redwood CS
  Title
Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.
  Journal
J Biol Chem 275:22069-74 (2000)
DOI:10.1074/jbc.M002502200
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