KEGG   VARIANT: 6311v1
Entry
6311v1                      Variant                                
Name
ATXN2 mutation
Gene
ATXN2  ataxin 2 [KO:K23625]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601517
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
PMID:20301452
  Authors
Pulst SM
  Title
Spinocerebellar Ataxia Type 2
  Journal
GeneReviews (1993)
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