Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.A130delFs
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PRRT2

NM_145239.3:p.A130delFs

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

PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Becker F et al.

Journal of Neurology, 2013

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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."