KEGG   VARIANT: 10111v1
Entry
10111v1                      Variant                               
Name
RAD50 mutation
Type
Loss of function
Gene
RAD50  RAD50 double strand break repair protein [KO:K10866]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604040
Network
nt06506  Double-strand break repair
Disease
H01344  Nijmegen breakage syndrome
Reference
PMID:19409520
  Authors
Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T
  Title
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.
  Journal
Am J Hum Genet 84:605-16 (2009)
DOI:10.1016/j.ajhg.2009.04.010
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