Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.P168delFs
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PRRT2

NM_145239.3:p.P168delFs

Associated Papers

Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Liu X et al.

Journal of Neurology, 2022

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

Liu M et al.

Frontiers in Pediatrics, 2022

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Okumura A et al.

Seizure, 2019

Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.

Sangu N et al.

Epilepsy Research, 2015

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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."