KEGG   VARIANT: 4853v1
Entry
4853v1                      Variant                                
Name
NOTCH2 mutation
Gene
NOTCH2  notch receptor 2 [KO:K20994]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600275
Network
nt06511  NOTCH signaling
Disease
H00551  Alagille syndrome
H00623  Hajdu-Cheney syndrome
Reference
PMID:35332121
  Authors
Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q
  Title
Notch signaling pathway: architecture, disease, and therapeutics.
  Journal
Signal Transduct Target Ther 7:95 (2022)
DOI:10.1038/s41392-022-00934-y
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