Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B1
Variant:p.D239V
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ATP2B1

NM_001366521.1:p.D239V

Associated Papers

De novo variants in ATP2B1 lead to neurodevelopmental delay.

Rahimi MJ et al.

American Journal of Human Genetics, 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."