KEGG   VARIANT: 10681v1
Entry
10681v1                      Variant                               
Name
GNB5 mutation
Type
Loss of function
Gene
GNB5  G protein subunit beta 5 [KO:K04539]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604447
Network
nt06544  Neuroactive ligand signaling
Disease
H02895  Lodder-Merla syndrome
Reference
  Authors
Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G
  Title
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
  Journal
Am J Hum Genet 99:704-710 (2016)
DOI:10.1016/j.ajhg.2016.06.025
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