KEGG   VARIANT: 6016v1
Entry
6016v1                      Variant                                
Name
RIT1 mutation
Type
Gain of function
Gene
RIT1  Ras like without CAAX 1 [KO:K07832]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609591
Network
nt06526  MAPK signaling
Disease
H01738  Noonan syndrome
Reference
PMID:33011209
  Authors
Malaquias AC, Jorge AAL
  Title
Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity.
  Journal
Mol Cell Endocrinol 519:111040 (2021)
DOI:10.1016/j.mce.2020.111040
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