KEGG   VARIANT: 9775v1
Entry
9775v1                      Variant                                
Name
EIF4A3 mutation
Type
Loss of function
Gene
EIF4A3  eukaryotic translation initiation factor 4A3 [KO:K13025]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608546
Network
nt06547  Spliceosome
Disease
H02503  Richieri-Costa-Pereira syndrome
Reference
PMID:24360810
  Authors
Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR
  Title
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
  Journal
Am J Hum Genet 94:120-8 (2014)
DOI:10.1016/j.ajhg.2013.11.020
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