Varaico: Literature-Extracted Genetic Variants

Gene:AKT3
Variant:p.P466L
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AKT3

NM_005465.7:p.P466L

Associated Papers

Functional verification and allele-specific silencing of a novel AKT3 variant that causes megalencephaly, polymicrogyria and intractable epilepsy.

Miyamoto Y et al.

Journal of Human Genetics, 2025

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Akula SK et al.

Jama Neurology, 2023

37486637 (PubMed )
Supplement: jamaneurol-e232363-s002.xlsx › All_-_AlphaGene
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