KEGG   VARIANT: 3594v1
Entry
3594v1                      Variant                                
Name
IL12RB1 mutation
Type
Loss of function
Gene
IL12RB1  interleukin 12 receptor subunit beta 1 [KO:K05063]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601604
Network
nt06518  JAK-STAT signaling
Disease
H00089  IFN-gamma/IL-12 axis
Reference
PMID:9603732
  Authors
Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL
  Title
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency.
  Journal
Science 280:1432-5 (1998)
DOI:10.1126/science.280.5368.1432
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