KEGG   VARIANT: 5591v1
Entry
5591v1                      Variant                                
Name
DNAPKc mutation
Type
Loss of function
Gene
PRKDC  protein kinase, DNA-activated, catalytic subunit [KO:K06642]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600899
Network
nt06506  Double-strand break repair
Disease
H00092  T-B-Severe combined immunodeficiency
Reference
PMID:19075392
  Authors
van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC
  Title
A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining.
  Journal
J Clin Invest 119:91-8 (2009)
DOI:10.1172/JCI37141
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