KEGG   VARIANT: 10095v1
Entry
10095v1                      Variant                               
Name
ARPC1B mutation
Type
Loss of function
Gene
ARPC1B  actin-related protein 2/3 complex subunit 1B [KO:K05757]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604223
Network
nt06549  Cadherin signaling
Disease
H00093  Combined immunodeficiency
Reference
  Authors
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM
  Title
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
  Journal
Nat Commun 8:14816 (2017)
DOI:10.1038/ncomms14816
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