KEGG   VARIANT: 7204v2
Entry
7204v2                      Variant                                
Name
TRIO gain-of-function mutation
Type
Gain of function
Gene
TRIO  trio Rho guanine nucleotide exchange factor [KO:K08810]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601893
Network
nt06541  Cytoskeleton in neurons
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogne B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gerard M, Putoux A, Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D
  Title
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
  Journal
Am J Hum Genet 106:338-355 (2020)
DOI:10.1016/j.ajhg.2020.01.018
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