KEGG   VARIANT: 134701v1
Entry
134701v1                      Variant                              
Name
RIPPLY2 mutation
Type
Loss of function
Gene
RIPPLY2  ripply transcriptional repressor 2 [KO:K28315]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609891
Network
nt06511  NOTCH signaling
Disease
H00517  Spondylocostal dysostosis
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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