KEGG   VARIANT: 79840v1
Entry
79840v1                      Variant                               
Name
XLF mutation
Type
Loss of function
Gene
NHEJ1  non-homologous end joining factor 1 [KO:K10980]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611290
Network
nt06506  Double-strand break repair
Disease
H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
Reference
PMID:16439204
  Authors
Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P
  Title
Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly.
  Journal
Cell 124:287-99 (2006)
DOI:10.1016/j.cell.2005.12.030
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