KEGG   VARIANT: 6655v1
Entry
6655v1                      Variant                                
Name
SOS2 mutation
Type
Gain of function
Gene
SOS2  son of sevenless homolog 2 isoform 1 [KO:K03099]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601247
Network
nt06526  MAPK signaling
Disease
H01738  Noonan syndrome
Reference
PMID:36394128
  Authors
Tartaglia M, Aoki Y, Gelb BD
  Title
The molecular genetics of RASopathies: An update on novel disease genes and new disorders.
  Journal
Am J Med Genet C Semin Med Genet 190:425-439 (2022)
DOI:10.1002/ajmg.c.32012
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