KEGG   VARIANT: 4287v1
Entry
4287v1                      Variant                                

Name
ATXN3 mutation
Gene
ATXN3  ataxin 3 [KO:K11863]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607047
Reference
  Authors
Paulson H
  Title
Spinocerebellar Ataxia Type 3
  Journal
(1993)
Reference
PMID:7874163
  Authors
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al.
  Title
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1.
  Journal
Nat Genet 8:221-8 (1994)
DOI:10.1038/ng1194-221

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