KEGG   VARIANT: 5605v1
Entry
5605v1                      Variant                                
Name
MAP2K2 mutation
Type
Gain of function
Gene
MAP2K2  dual specificity mitogen-activated protein kinase kinase 2 isoform 1 [KO:K04369]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601263
Network
nt06526  MAPK signaling
Disease
H01745  Cardiofaciocutaneous 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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