KEGG   VARIANT: 1131v1
Entry
1131v1                      Variant                                
Name
CHRM3 mutation
Type
Loss of function
Gene
CHRM3  muscarinic acetylcholine receptor M3 [KO:K04131]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 118494
Network
nt06544  Neuroactive ligand signaling
Disease
H02129  Prune belly syndrome
Reference
  Authors
Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altmuller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann KP, Beetz R, Hoyer PF, Konrad M, Schaefer F, Nurnberg P, Woolf AS
  Title
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.
  Journal
Am J Hum Genet 89:668-74 (2011)
DOI:10.1016/j.ajhg.2011.10.007
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