KEGG   VARIANT: 1292v1
Entry
1292v1                      Variant                                
Name
COL6A2 mutation
Type
Loss of function
Gene
COL6A2  collagen alpha-2(VI) chain isoform 2C2 precursor [KO:K06238]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120240
Network
nt06539  Cytoskeleton in muscle cells
nt06548  Integrin signaling
Disease
H01338  Myosclerosis
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Reference
PMID:11865138
  Authors
Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP
  Title
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
  Journal
Neurology 58:593-602 (2002)
DOI:10.1212/wnl.58.4.593
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