VARIANT: 3932v1
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Entry
3932v1 Variant
Name
LCK mutation
Type
Loss of function
Gene
LCK
LCK proto-oncogene, Src family tyrosine kinase [KO:
K05856
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
153390
Network
nt06537
TCR/BCR signaling
Disease
H00093
Combined immunodeficiency
Reference
PMID:
35091087
Authors
Latour S
Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
Journal
Biomed J 45:321-333 (2022)
DOI:
10.1016/j.bj.2022.01.013
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