Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.G324S
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ATP1A2

NM_000702.4:p.G324S

Associated Papers

The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.

Dai L et al.

Brain & Development, 2023

A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS-like alternating hemiplegia.

Zhang X et al.

Molecular Genetics & Genomic Medicine, 2023

De novo ATP1A2 variants in two Chinese children with alternating hemiplegia of childhood upgraded the gene-disease relationship and variant classification: a case report.

Huang D et al.

Bmc Medical Genomics, 2021

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
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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."