KEGG   VARIANT: 3689v1
Entry
3689v1                      Variant                                
Name
ITGB2 mutation
Type
Loss of function
Gene
ITGB2  integrin subunit beta 2 [KO:K06464]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600065
Network
nt06546  IgSF CAM signaling
Disease
H00099  Leukocyte adhesion deficiency
Reference
PMID:1694220
  Authors
Wardlaw AJ, Hibbs ML, Stacker SA, Springer TA
  Title
Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates.
  Journal
J Exp Med 172:335-45 (1990)
DOI:10.1084/jem.172.1.335
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