KEGG   VARIANT: 8452v1
Entry
8452v1                      Variant                                
Name
CUL3 mutation
Type
Loss of function
Gene
CUL3  cullin 3 [KO:K03869]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603136
Network
nt06541  Cytoskeleton in neurons
Disease
H02864  Neurodevelopmental disorder with or without autism or seizures
Reference
PMID:32341456
  Authors
Nakashima M, Kato M, Matsukura M, Kira R, Ngu LH, Lichtenbelt KD, van Gassen KLI, Mitsuhashi S, Saitsu H, Matsumoto N
  Title
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms.
  Journal
J Hum Genet 65:727-734 (2020)
DOI:10.1038/s10038-020-0758-2
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