Varaico: Literature-Extracted Genetic Variants

Gene:PRRT2
Variant:p.Q149K
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PRRT2

NM_145239.3:p.Q149K

Associated Papers

[Clinical phenotypic and genetic analysis of three children with Paroxysmal kinesigenic dyskinesia and Self-limited familial infantile epilepsy caused by PRRT2 gene mutation].

Song D et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025

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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."