Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.R593Q
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ATP1A2

NM_000702.4:p.R593Q

Associated Papers

Negative Selection Maintains Grossly Altered but Broadly Stable Karyotypes in Metastatic Colorectal Cancer.

Cross WCH et al.

Cancer Discovery, 2026

41563072 (PubMed )
Supplement: cd-24-0813_supplementary_table_7_suppst7.xlsx › C319

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Vetro A et al.

Brain : a Journal of Neurology, 2021

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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."