KEGG   VARIANT: 4854v1
Entry
4854v1                      Variant                                
Name
NOTCH3 mutation
Gene
NOTCH3  notch receptor 3 [KO:K20995]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600276
Network
nt06511  NOTCH signaling
Disease
H00536  Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL)
H01893  Lateral meningocele syndrome
H01910  Infantile myofibromatosis
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
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