VARIANT: 23495v1
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Entry
23495v1 Variant
Name
TNFRSF13B mutation
Type
Loss of function
Gene
TNFRSF13B
TNF receptor superfamily member 13B [KO:
K05150
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
604907
Network
nt06516
TNF signaling
Disease
H00088
Common variable immunodeficiency
Reference
PMID:
16007086
Authors
Castigli E, Wilson SA, Garibyan L, Rachid R, Bonilla F, Schneider L, Geha RS
Title
TACI is mutant in common variable immunodeficiency and IgA deficiency.
Journal
Nat Genet 37:829-34 (2005)
DOI:
10.1038/ng1601
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