VARIANT: 841v1
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Entry
841v1 Variant
Name
CASP8 mutation
Gene
CASP8
caspase 8 [KO:
K04398
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
601763
Network
nt06524
Apoptosis
nt06527
Necroptosis
Disease
H00108
Autoimmune lymphoproliferative syndromes
Reference
PMID:
33356695
Authors
Casamayor-Polo L, Lopez-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM
Title
Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS).
Journal
Crit Rev Clin Lab Sci 58:253-274 (2021)
DOI:
10.1080/10408363.2020.1855623
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