KEGG   VARIANT: 8517v1
Entry
8517v1                      Variant                                
Name
IKBKG mutation
Type
Loss of function
Gene
IKBKG  inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [KO:K07210]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300248
Network
nt06516  TNF signaling
Disease
H00540  Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID)
H00645  Incontinentia pigmenti
Reference
PMID:29456080
  Authors
Maubach G, Schmadicke AC, Naumann M
  Title
NEMO Links Nuclear Factor-kappaB to Human Diseases: (Trends Mol Med. 23, 1138-1155; 2017).
  Journal
Trends Mol Med 24:654 (2018)
DOI:10.1016/j.molmed.2018.01.009
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