Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.R597H
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ATP1A3

NM_152296.5:p.R597H

Associated Papers

New insights into neurodevelopmental disorders by whole genome sequencing of 100 families from Italy.

Spirito G et al.

Npj Genomic Medicine, 2026

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2

Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.

Balciuniene J et al.

Jama Network Open, 2019

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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."