KEGG   VARIANT: 1073v1
Entry
1073v1                      Variant                                
Name
CFL2 mutation
Type
Loss of function
Gene
CFL2  cofilin 2 [KO:K05765]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601443
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00698  Nemaline myopathy
Reference
  Authors
Fattori F, Fiorillo C, Rodolico C, Tasca G, Verardo M, Bellacchio E, Pizzi S, Ciolfi A, Fagiolari G, Lupica A, Broda P, Pedemonte M, Moggio M, Bruno C, Tartaglia M, Bertini E, D'Amico A
  Title
Expanding the histopathological spectrum of CFL2-related myopathies.
  Journal
Clin Genet 93:1234-1239 (2018)
DOI:10.1111/cge.13240
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