KEGG   VARIANT: 6197v1
Entry
6197v1                      Variant                                
Name
RPS6KA3 mutation
Type
Loss of function
Gene
RPS6KA3  ribosomal protein S6 kinase A3 [KO:K04373]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300075
Network
nt06526  MAPK signaling
Disease
H00574  Coffin-Lowry syndrome
Reference
PMID:30862318
  Authors
Vogiatzi A, Mavrothalassitis G
  Title
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway.
  Journal
Expert Rev Mol Med 21:e2 (2019)
DOI:10.1017/erm.2019.2
Reference
PMID:19888300
  Authors
Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A
  Title
Coffin-Lowry syndrome.
  Journal
Eur J Hum Genet 18:627-33 (2010)
DOI:10.1038/ejhg.2009.189
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