KEGG   VARIANT: 2916v1
Entry
2916v1                      Variant                                
Name
GRM6 mutation
Type
Loss of function
Gene
GRM6  glutamate metabotropic receptor 6 [KO:K04608]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604096
Network
nt06544  Neuroactive ligand signaling
Disease
H00787  Congenital stationary night blindness
Reference
PMID:16249515
  Authors
Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Matyas G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W
  Title
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
  Journal
Invest Ophthalmol Vis Sci 46:4328-35 (2005)
DOI:10.1167/iovs.05-0526
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