Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.M293_S294Splc
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PRRT2

NM_145239.3:p.M293_S294Splc

Associated Papers

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.

Xu JJ et al.

Annals of Clinical and Translational Neurology, 2025

Genetic and phenotypic analyses of PRRT2 positive and negative paroxysmal kinesigenic dyskinesia.

Zhang Y et al.

Therapeutic Advances in Neurological Disorders, 2024

Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions.

Chen Y et al.

Frontiers of Medicine, 2021

The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.

Luo HY et al.

Frontiers in Pediatrics, 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."