Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.S233delFs
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PRRT2

NM_145239.3:p.S233delFs

Associated Papers

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

Liu M et al.

Frontiers in Pediatrics, 2022

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

Clinico-genetic comparisons of paroxysmal kinesigenic dyskinesia patients with and without PRRT2 mutations.

Tan LC et al.

European Journal of Neurology, 2014

PRRT2 mutations: exploring the phenotypical boundaries.

Djémié T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2014

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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."