Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R229K
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PRRT2

NM_145239.3:p.R229K

Associated Papers

Activity-dependent cleavage of dyskinesia-related proline-rich transmembrane protein 2 (PRRT2) by calpain in mouse primary cortical neurons.

Hatta D et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020

A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion.

Baldi S et al.

Behavioural Neurology, 2020

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."