KEGG   VARIANT: 841v1
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
  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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