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
Thyroid hypogenesis is associated with a novel AKT3 germline variant that causes megalencephaly and cortical malformation.
Mori J et al.
Human Genome Variation, 2022
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