KEGG   VARIANT: 970v1
Entry
970v1                      Variant                                 
Name
CD70 mutation
Type
Loss of function
Gene
CD70  CD70 molecule [KO:K05470]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602840
Network
nt06516  TNF signaling
Disease
H01970  Lymphoproliferative syndrome
Reference
  Authors
Abolhassani H, Edwards ES, Ikinciogullari A, Jing H, Borte S, Buggert M, Du L, Matsuda-Lennikov M, Romano R, Caridha R, Bade S, Zhang Y, Frederiksen J, Fang M, Bal SK, Haskologlu S, Dogu F, Tacyildiz N, Matthews HF, McElwee JJ, Gostick E, Price DA, Palendira U, Aghamohammadi A, Boisson B, Rezaei N, Karlsson AC, Lenardo MJ, Casanova JL, Hammarstrom L, Tangye SG, Su HC, Pan-Hammarstrom Q
  Title
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
  Journal
J Exp Med 214:91-106 (2017)
DOI:10.1084/jem.20160849
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