KEGG   VARIANT: 1460v1
Entry
1460v1                      Variant                                
Name
CSNK2B mutation
Gene
CSNK2B  casein kinase 2 beta [KO:K03115]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 115441
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02635  Poirier-Bienvenu neurodevelopmental syndrome
Reference
PMID:28585349
  Authors
Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T
  Title
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
  Journal
Hum Mutat 38:932-941 (2017)
DOI:10.1002/humu.23270
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