KEGG   VARIANT: 4595v1
Entry
4595v1                      Variant                                
Name
MUTYH mutation
Type
Loss of function
Gene
MUTYH  mutY DNA glycosylase [KO:K03575]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604933
Network
nt06504  Base excision repair
Disease
H00018  Gastric cancer
H01025  Familial adenomatous polyposis
Reference
  Authors
Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP
  Title
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH.
  Journal
N Engl J Med 348:791-9 (2003)
DOI:10.1056/NEJMoa025283
Reference
  Authors
Kim CJ, Cho YG, Park CH, Kim SY, Nam SW, Lee SH, Yoo NJ, Lee JY, Park WS
  Title
Genetic alterations of the MYH gene in gastric cancer.
  Journal
Oncogene 23:6820-2 (2004)
DOI:10.1038/sj.onc.1207574
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