KEGG   VARIANT: 7170v1
Entry
7170v1                      Variant                                
Name
TPM3 mutation
Type
Loss of function
Gene
TPM3  tropomyosin alpha-3 chain isoform Tpm3.12st [KO:K09290]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191030
Network
nt06539  Cytoskeleton in muscle cells
Disease
H01810  Congenital myopathy
Reference
PMID:37936227
  Authors
Lambert MR, Gussoni E
  Title
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.
  Journal
Skelet Muscle 13:18 (2023)
DOI:10.1186/s13395-023-00327-x
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