KEGG   VARIANT: 7222v1
Entry
7222v1                      Variant                                
Name
TRPC3 mutation
Type
Gain of function
Gene
TRPC3  short transient receptor potential channel 3 isoform a [KO:K04966]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602345
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
PMID:25477146
  Authors
Fogel BL, Hanson SM, Becker EB
  Title
Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans?
  Journal
Mov Disord 30:284-6 (2015)
DOI:10.1002/mds.26096
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