Varaico: Literature-Extracted Genetic Variants

Gene:AKT3
Variant:p.N321K
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AKT3

NM_005465.7:p.N321K

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

The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.

Wang X et al.

Scientific Reports, 2025

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."