KEGG   VARIANT: 6572v1
Entry
6572v1                      Variant                                
Name
SLC18A3 mutation
Type
Loss of function
Gene
SLC18A3  solute carrier family 18 member A3 [KO:K14636]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600336
Network
nt06544  Neuroactive ligand signaling
Disease
H00770  Congenital myasthenic syndrome
Reference
  Authors
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST
  Title
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
  Journal
Neurology 87:1442-1448 (2016)
DOI:10.1212/WNL.0000000000003179
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