Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.L1440L
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ANK2

NM_001148.6:p.L1440L

Associated Papers

ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.

Teunissen MWA et al.

Human Molecular Genetics, 2023

37195288 (PubMed )
Supplement: supplementary_figures_tables_ddad081.pdf
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