KEGG   VARIANT: 1103v1
Entry
1103v1                      Variant                                
Name
CHAT mutation
Type
Loss of function
Gene
CHAT  choline O-acetyltransferase isoform 2 [KO:K00623]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 118490
Network
nt06544  Neuroactive ligand signaling
Disease
H00770  Congenital myasthenic syndrome
Reference
PMID:11172068
  Authors
Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG
  Title
Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
  Journal
Proc Natl Acad Sci U S A 98:2017-22 (2001)
DOI:10.1073/pnas.98.4.2017
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