KEGG   VARIANT: 115650v1
Entry
115650v1                      Variant                              
Name
TNFRSF13C mutation
Type
Loss of function
Gene
TNFRSF13C  TNF receptor superfamily member 13C [KO:K05151]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606269
Network
nt06516  TNF signaling
Disease
H00088  Common variable immunodeficiency
Reference
  Authors
Warnatz K, Salzer U, Rizzi M, Fischer B, Gutenberger S, Bohm J, Kienzler AK, Pan-Hammarstrom Q, Hammarstrom L, Rakhmanov M, Schlesier M, Grimbacher B, Peter HH, Eibel H
  Title
B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans.
  Journal
Proc Natl Acad Sci U S A 106:13945-50 (2009)
DOI:10.1073/pnas.0903543106
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