Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.N3632_L3633del2
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ANK2

NM_001148.6:p.N3632_L3633del2

Associated Papers

A Mutation in the ANK2 Gene Causing ASD and a Review of the Literature.

Zhao L et al.

Molecular Genetics & Genomic Medicine, 2025

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

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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."