KEGG   VARIANT: 84631v1
Entry
84631v1                      Variant                               
Name
SLITRK2 mutation
Type
Loss of function
Gene
SLITRK2  SLIT and NTRK like family member 2 [KO:K25833]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300561
Network
nt06546  IgSF CAM signaling
Disease
H00480  X-linked intellectual developmental disorder
Reference
PMID:35840571
  Authors
El Chehadeh S, Han KA, Kim D, Jang G, Bakhtiari S, Lim D, Kim HY, Kim J, Kim H, Wynn J, Chung WK, Vitiello G, Cutcutache I, Page M, Gecz J, Harper K, Han AR, Kim HM, Wessels M, Bayat A, Jaen AF, Selicorni A, Maitz S, de Brouwer APM, Silfhout AV, Armstrong M, Symonds J, Kury S, Isidor B, Cogne B, Nizon M, Feger C, Muller J, Torti E, Grange DK, Willems M, Kruer MC, Ko J, Piton A, Um JW
  Title
SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
  Journal
Nat Commun 13:4112 (2022)
DOI:10.1038/s41467-022-31566-z
LinkDB

DBGET integrated database retrieval system