• Mutation; HGNC; HGNC:7652; NBN; Simple; p.Lys219Asnfs*16 (c.657_661delACAAA) (657del5); ClinVar=VCV000006940; Zygosity=Homozygous (PubMed=10987302).
  

PubMed=3248383; DOI=10.1159/000132673
Jaspers N.G.J., Gatti R.A., Baan C.C., Linssen P.C.M.L., Bootsma D.
Genetic complementation analysis of ataxia telangiectasia and Nijmegen breakage syndrome: a survey of 50 patients.
Cytogenet. Cell Genet. 49:259-263(1988)

DOI=10.1007/978-1-4757-5016-4_9
Jaspers N.G.J., Roza L., Vermeulen W., Eker A.P.M., Taalman R.D.F.M., Hoeijmakers J.H.J., Bootsma D.
In vitro correction of cells from patients with mutagen hypersensitivity.
(In book chapter) DNA damage and repair; Castellani A. (eds.); pp.73-82; Springer; Boston; USA (1989)

PubMed=10987302
Girard P.-M., Foray N., Stumm M., Waugh A.P.W., Riballo E., Maser R.S., Phillips W.P., Petrini J.H.J., Arlett C.F., Jeggo P.A.
Radiosensitivity in Nijmegen breakage syndrome cells is attributable to a repair defect and not cell cycle checkpoint defects.
Cancer Res. 60:4881-4888(2000)