KEGG   VARIANT: 2550v1
Entry
2550v1                      Variant                                
Name
GABBR1 mutation
Type
Loss of function
Gene
GABBR1  gamma-aminobutyric acid type B receptor subunit 1 [KO:K04615]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603540
Network
nt06544  Neuroactive ligand signaling
Disease
H02890  Neurodevelopmental disorder with language delay and variable cognitive abnormalities
Reference
PMID:36103875
  Authors
Cediel ML, Stawarski M, Blanc X, Noskova L, Magner M, Platzer K, Gburek-Augustat J, Baldridge D, Constantino JN, Ranza E, Bettler B, Antonarakis SE
  Title
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy.
  Journal
Am J Hum Genet 109:1885-1893 (2022)
DOI:10.1016/j.ajhg.2022.08.010
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