KEGG   VARIANT: 6443v1
Entry
6443v1                      Variant                                
Name
SGCB mutation
Type
Loss of function
Gene
SGCB  sarcoglycan beta [KO:K12566]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600900
Network
nt06539  Cytoskeleton in muscle cells
Disease
H00593  Limb-girdle muscular dystrophy
Reference
PMID:18285821
  Authors
Trabelsi M, Kavian N, Daoud F, Commere V, Deburgrave N, Beugnet C, Llense S, Barbot JC, Vasson A, Kaplan JC, Leturcq F, Chelly J
  Title
Revised spectrum of mutations in sarcoglycanopathies.
  Journal
Eur J Hum Genet 16:793-803 (2008)
DOI:10.1038/ejhg.2008.9
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