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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRT2

Variant:p.Q106delFs

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PRRT2

NM_145239.3:p.Q106delFs

hg38:chr16:29813370 CA>C

Associated Papers

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

Okumura A et al.

Seizure, 2019

31154286 (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."