Varaico: Literature-Extracted Genetic Variants

Gene:PIK3R2
Variant:p.G385R
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PIK3R2

NM_005027.4:p.G385R

Associated Papers

Clinical and molecular data in cases of prenatal localized overgrowth disorder: major implication of genetic variants in PI3K-AKT-mTOR signaling pathway.

Bourgon N et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022

A PIK3R2 Mutation in Familial Temporal Lobe Epilepsy as a Possible Pathogenic Variant.

Wang Y et al.

Frontiers in Genetics, 2021

34040629 (PubMed )
Supplement: Table_2.DOCX
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