Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.T108fs
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PRRT2

NM_145239.3:p.T108fs

Associated Papers

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.

Döring JH et al.

Biomedicines, 2020

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

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

Zeng Q et al.

Journal of Human Genetics, 2018

A novel mutation and functional implications of 5 variants in the PRRT2 gene in 20 paroxysmal kinesigenic dyskinesia pedigrees.

Jing XY et al.

Parkinsonism & Related Disorders, 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."