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Evidence Repository - Clinical Genome Resources
Feb 17, 2022 · The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in …
NM_005027.4 (PIK3R2):c.1117G>A (p.Gly373Arg) AND Overgrowth …
The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_VS; …
VCV000039808.64 - ClinVar - NCBI
Functional studies have reported that this variant results in an increased PI3K activity and elevated PI3K-mTOR signaling with …
Evidence Repository - GenboreeKB
The prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_VS; …