KEGG   VARIANT: 4851v2
Entry
4851v2                      Variant                                
Name
NOTCH1 mutation
Gene
NOTCH1  notch receptor 1 [KO:K02599]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 190198
Network
nt06511  NOTCH signaling
Disease
H00554  Aortic valve disease
H01413  Adams-Oliver syndrome
Reference
PMID:28512196
  Authors
Masek J, Andersson ER
  Title
The developmental biology of genetic Notch disorders.
  Journal
Development 144:1743-1763 (2017)
DOI:10.1242/dev.148007
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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