Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R145fs
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PRRT2

NM_145239.3:p.R145fs

Associated Papers

Genetic Risk Factors for Neurological Disorders in Children with Adverse Events Following Immunization: A Descriptive Study of a Polish Case Series.

Charzewska A et al.

International Journal of Molecular Sciences, 2023

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

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.

Zheng W et al.

Molecular Neurobiology, 2016

Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

Heron SE et al.

Journal of Medical Genetics, 2013

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Cloarec R et al.

Neurology, 2012

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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."