KEGG   VARIANT: 2743v1
Entry
2743v1                      Variant                                
Name
GLRB mutation
Type
Loss of function
Gene
GLRB  glycine receptor subunit beta isoform A precursor [KO:K05196]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138492
Network
nt06544  Neuroactive ligand signaling
Disease
H00769  Hyperekplexia
Reference
PMID:11929858
  Authors
Rees MI, Lewis TM, Kwok JB, Mortier GR, Govaert P, Snell RG, Schofield PR, Owen MJ
  Title
Hyperekplexia associated with compound heterozygote mutations in the beta-subunit of the human inhibitory glycine receptor (GLRB).
  Journal
Hum Mol Genet 11:853-60 (2002)
DOI:10.1093/hmg/11.7.853
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