KEGG   VARIANT: 930v1
Entry
930v1                      Variant                                 
Name
CD19 mutation
Type
Loss of function
Gene
CD19  CD19 molecule [KO:K06465]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 107265
Network
nt06537  TCR/BCR signaling
Disease
H00088  Common variable immunodeficiency
Reference
PMID:16672701
  Authors
van Zelm MC, Reisli I, van der Burg M, Castano D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patino PJ, van Dongen JJ, Franco JL
  Title
An antibody-deficiency syndrome due to mutations in the CD19 gene.
  Journal
N Engl J Med 354:1901-12 (2006)
DOI:10.1056/NEJMoa051568
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