Varaico: Literature-Extracted Genetic Variants

Gene:ATM
Variant:p.A2631T
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ATM

NM_000051.4:p.A2631T

Associated Papers

A novel KCND3 variant in the N-terminus impairs the ionic current of Kv4.3 and is associated with SCA19/22.

Reis MC et al.

Journal of Cellular and Molecular Medicine, 2024

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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."