Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q307*
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PRRT2

NM_145239.3:p.Q307*

Associated Papers

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

Chen Y et al.

Frontiers of Medicine, 2021

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

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Becker F et al.

Journal of Neurology, 2013

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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."