Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B1
Variant:p.W153*
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ATP2B1

NM_001366521.1:p.W153*

Associated Papers

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

Zhu JH et al.

Seizure, 2025

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.

Yap P et al.

European Journal of Human Genetics : Ejhg, 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."