KEGG   VARIANT: 11284v1
Entry
11284v1                      Variant                               
Name
PNKP mutation
Type
Loss of function
Gene
PNKP  polynucleotide kinase 3'-phosphatase [KO:K08073]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605610
Network
nt06504  Base excision repair
Disease
H00848  Ataxia with ocular apraxia
Reference
PMID:20118933
  Authors
Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA
  Title
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
  Journal
Nat Genet 42:245-9 (2010)
DOI:10.1038/ng.526
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