KEGG   VARIANT: 182v1
Entry
182v1                      Variant                                 
Name
JAG1 mutation
Gene
JAG1  jagged canonical Notch ligand 1 [KO:K06052]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601920
Network
nt06511  NOTCH signaling
Disease
H00549  Tetralogy of Fallot
H00551  Alagille syndrome
Reference
PMID:22306179
  Authors
Penton AL, Leonard LD, Spinner NB
  Title
Notch signaling in human development and disease.
  Journal
Semin Cell Dev Biol 23:450-7 (2012)
DOI:10.1016/j.semcdb.2012.01.010
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