Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.M293_S294Splc
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PRRT2

NM_145239.3:p.M293_S294Splc

Associated Papers

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

Chen Y et al.

Frontiers of Medicine, 2021

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

PRRT2 mutations: exploring the phenotypical boundaries.

Djémié T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2014

PRRT2 mutations and paroxysmal disorders.

Méneret A et al.

European Journal of Neurology, 2013

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

Heron SE et al.

Journal of Medical Genetics, 2013

PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

Heron SE et al.

American Journal of Human Genetics, 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."