KEGG   VARIANT: 11141v1
Entry
11141v1                      Variant                               
Name
IL1RAPL1 mutation
Type
Loss of function
Gene
IL1RAPL1  interleukin 1 receptor accessory protein like 1 [KO:K05170]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300206
Network
nt06546  IgSF CAM signaling
Disease
H00480  X-linked intellectual developmental disorder
Reference
PMID:18801879
  Authors
Piton A, Michaud JL, Peng H, Aradhya S, Gauthier J, Mottron L, Champagne N, Lafreniere RG, Hamdan FF, Joober R, Fombonne E, Marineau C, Cossette P, Dube MP, Haghighi P, Drapeau P, Barker PA, Carbonetto S, Rouleau GA
  Title
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
  Journal
Hum Mol Genet 17:3965-74 (2008)
DOI:10.1093/hmg/ddn300
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