Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R217delFs
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PRRT2

NM_145239.3:p.R217delFs

Associated Papers

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.

Liu M et al.

Frontiers in Pediatrics, 2022

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Sutherland HG et al.

Cells, 2020

Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.

Lee J et al.

Molecular Genetics & Genomic Medicine, 2020

Galloping tongue syndrome in a PRRT2 mutation carrier.

Vilas D et al.

Neurology. Genetics, 2019

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Okumura A et al.

Seizure, 2019

The evolving spectrum of PRRT2-associated paroxysmal diseases.

Ebrahimi-Fakhari D et al.

Brain : a Journal of Neurology, 2015

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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."