KEGG   VARIANT: 55775v1
Entry
55775v1                      Variant                               
Name
TDP1 mutation
Type
Loss of function
Gene
TDP1  tyrosyl-DNA phosphodiesterase 1 [KO:K10862]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607198
Network
nt06504  Base excision repair
Disease
H02573  Autosomal recessive spinocerebellar ataxias with axonal neuropathy
Reference
PMID:12244316
  Authors
Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR
  Title
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy.
  Journal
Nat Genet 32:267-72 (2002)
DOI:10.1038/ng987
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