KEGG   VARIANT: 59345v1
Entry
59345v1                      Variant                               
Name
GNB4 mutation
Type
Loss of function
Gene
GNB4  G protein subunit beta 4 [KO:K04538]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610863
Network
nt06544  Neuroactive ligand signaling
Disease
H00264  Charcot-Marie-Tooth disease
Reference
PMID:23434117
  Authors
Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC
  Title
Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease.
  Journal
Am J Hum Genet 92:422-30 (2013)
DOI:10.1016/j.ajhg.2013.01.014
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