KEGG   VARIANT: 10293v1
Entry
10293v1                      Variant                               
Name
TRAIP mutation
Gene
TRAIP  TRAF interacting protein [KO:K11985]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605958
Network
nt06509  DNA replication
Disease
H00992  Seckel syndrome
Reference
  Authors
Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP
  Title
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.
  Journal
Nat Genet 48:36-43 (2016)
DOI:10.1038/ng.3451
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