Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.E332Q
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ATP1A2

NM_000702.4:p.E332Q

Associated Papers

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Panagiotakaki E et al.

European Journal of Human Genetics : Ejhg, 2024

Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.

Krygier M et al.

Frontiers in Genetics, 2023

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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."