KEGG   VARIANT: 2784v1
Entry
2784v1                      Variant                                
Name
GNB3 mutation
Type
Loss of function
Gene
GNB3  G protein subunit beta 3 [KO:K07825]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 139130
Network
nt06544  Neuroactive ligand signaling
Disease
H00787  Congenital stationary night blindness
Reference
PMID:27063057
  Authors
Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Heon E
  Title
Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
  Journal
Am J Hum Genet 98:1011-1019 (2016)
DOI:10.1016/j.ajhg.2016.03.021
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