KEGG   VARIANT: 2036v1
Entry
2036v1                      Variant                                
Name
EPB41L1 mutation
Type
Loss of function
Gene
EPB41L1  erythrocyte membrane protein band 4.1 like 1 [KO:K23961]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602879
Network
nt06546  IgSF CAM signaling
Disease
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Hamdan FF, Gauthier J, Araki Y, Lin DT, Yoshizawa Y, Higashi K, Park AR, Spiegelman D, Dobrzeniecka S, Piton A, Tomitori H, Daoud H, Massicotte C, Henrion E, Diallo O, Shekarabi M, Marineau C, Shevell M, Maranda B, Mitchell G, Nadeau A, D'Anjou G, Vanasse M, Srour M, Lafreniere RG, Drapeau P, Lacaille JC, Kim E, Lee JR, Igarashi K, Huganir RL, Rouleau GA, Michaud JL
  Title
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
  Journal
Am J Hum Genet 88:306-16 (2011)
DOI:10.1016/j.ajhg.2011.02.001
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