Varaico: Literature-Extracted Genetic Variants

Gene:ANK3
Variant:p.S2417A
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ANK3

NM_020987.5:p.S2417A

Associated Papers

Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.

Yoon S et al.

Experimental & Molecular Medicine, 2022

Neurodevelopmental mutation of giant ankyrin-G disrupts a core mechanism for axon initial segment assembly.

Yang R et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Axonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier.

Nelson AD et al.

Frontiers in Cellular Neuroscience, 2017

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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."