KEGG   VARIANT: 29089v1
Entry
29089v1                      Variant                               
Name
UBE2T mutation
Type
Loss of function
Gene
UBE2T  ubiquitin conjugating enzyme E2 T [KO:K13960]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610538
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
  Authors
Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M
  Title
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia.
  Journal
Am J Hum Genet 96:1001-7 (2015)
DOI:10.1016/j.ajhg.2015.04.022
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