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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT2

Variant:p.M293_S294Splc

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PRRT2

NM_145239.3:p.M293_S294Splc

hg38:chr16:29814332 G>A

Associated Papers

[Clinical manifestations and genetic diagnosis of paroxysmal kinesigenic dyskinesia].

Zhu XM et al.

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017

29132464 (PubMed )

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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."