Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q263*
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PRRT2

NM_145239.3:p.Q263*

Associated Papers

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

Liu M et al.

Frontiers in Pediatrics, 2022

The Phenotypic and Genetic Spectrum of Paroxysmal Kinesigenic Dyskinesia in China.

Huang XJ et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2020

PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures.

Zhao G et al.

The International Journal of Neuroscience, 2018

Paroxysmal kinesigenic dyskinesia: Clinical and genetic analyses of 110 patients.

Huang XJ et al.

Neurology, 2015

A Novel Truncation Mutation of the PRRT2 Gene Resulting in a 16-Amino-Acid Protein Causes Self-inducible Paroxysmal Kinesigenic Dyskinesia.

Kita M et al.

Movement Disorders Clinical Practice, 0

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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."