Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P279L
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PRRT2

NM_145239.3:p.P279L

Associated Papers

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

Liu M et al.

Frontiers in Pediatrics, 2022

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

Döring JH et al.

Biomedicines, 2020

Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

Zhao SY et al.

Cns Neuroscience & Therapeutics, 2020

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Møller RS et al.

Molecular Syndromology, 2016

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."