KEGG   VARIANT: 4913v1
Entry
4913v1                      Variant                                
Name
NTH mutation
Type
Loss of function
Gene
NTHL1  nth like DNA glycosylase 1 [KO:K10773]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602656
Network
nt06504  Base excision repair
Disease
H01025  Familial adenomatous polyposis
Reference
  Authors
Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N
  Title
A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.
  Journal
Nat Genet 47:668-71 (2015)
DOI:10.1038/ng.3287
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