Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B1
Variant:p.T264I
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ATP2B1

NM_001366521.1:p.T264I

Associated Papers

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Rahimi MJ et al.

American Journal of Human Genetics, 2025

ATP2B1 variants associated with generalized epilepsy without neurodevelopmental disorders and the underlying mechanism.

Zhu JH et al.

Seizure, 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."