KEGG   VARIANT: 11193v1
Entry
11193v1                      Variant                               
Name
WBP4 mutation
Type
Loss of function
Gene
WBP4  WW domain binding protein 4 [KO:K13220]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604981
Network
nt06547  Spliceosome
Disease
H02998  Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities
Reference
PMID:37963460
  Authors
Engal E, Oja KT, Maroofian R, Geminder O, Le TL, Marzin P, Guimier A, Mor E, Zvi N, Elefant N, Zaki MS, Gleeson JG, Muru K, Pajusalu S, Wojcik MH, Pachat D, Elmaksoud MA, Chan Jeong W, Lee H, Bauer P, Zifarelli G, Houlden H, Daana M, Elpeleg O, Amiel J, Lyonnet S, Gordon CT, Harel T, Ounap K, Salton M, Mor-Shaked H
  Title
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.
  Journal
Am J Hum Genet 110:2112-2119 (2023)
DOI:10.1016/j.ajhg.2023.10.013
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