Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.R227Q
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PRRT2

NM_145239.3:p.R227Q

Associated Papers

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

Chen Y et al.

Frontiers of Medicine, 2021

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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."