Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P138R
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PRRT2

NM_145239.3:p.P138R

Associated Papers

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine.

Cloarec R et al.

Neurology, 2012

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Chen WJ et al.

Nature Genetics, 2011

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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."