KEGG   VARIANT: 3516v1
Entry
3516v1                      Variant                                
Name
RBPJ mutation
Gene
RBPJ  recombination signal binding protein for immunoglobulin kappa J region [KO:K06053]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 147183
Network
nt06511  NOTCH signaling
Disease
H01413  Adams-Oliver 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
LinkDB

DBGET integrated database retrieval system