KEGG   VARIANT: 23162v1
Entry
23162v1                      Variant                               
Name
MAPK8IP3 mutation
Type
Loss of function
Gene
MAPK8IP3  mitogen-activated protein kinase 8 interacting protein 3 [KO:K04436]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation
OmimVar: 605431
Network
nt06541  Cytoskeleton in neurons
Disease
H02862  Neurodevelopmental disorder with or without variable brain abnormalities
Reference
PMID:30612693
  Authors
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, Cho MT, Demmer LA, Falik-Zaccai T, Gamble CN, Hellenbroich Y, Iascone M, Kok F, Mahida S, Mandel H, Marquardt T, McWalter K, Panis B, Pepler A, Pinz H, Ramos L, Shinde DN, Smith-Hicks C, Stegmann APA, Stobe P, Stumpel CTRM, Wilson C, Lemke JR, Di Donato N, Miller KG, Jamra R
  Title
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
  Journal
Am J Hum Genet 104:203-212 (2019)
DOI:10.1016/j.ajhg.2018.12.008
LinkDB

DBGET integrated database retrieval system