KEGG   VARIANT: 7168v1
Entry
7168v1                      Variant                                
Name
TPM1 mutation
Type
Loss of function
Gene
TPM1  tropomyosin 1 [KO:K10373]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191010
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00294  Dilated cardiomyopathy
Reference
PMID:11273725
  Authors
Olson TM, Kishimoto NY, Whitby FG, Michels VV
  Title
Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy.
  Journal
J Mol Cell Cardiol 33:723-32 (2001)
DOI:10.1006/jmcc.2000.1339
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