Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype

Discussion: Recurrent and novel RRAS2 variants that we reported showed increased in vitro or in vivo RAS signaling pathway activity because of gain-of-function RRAS2 variants. Clinical features are similar to those previously reported, suggesting that RRAS2 gain-of-function variants cause this disease in patients.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research