Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP2
Variant:p.I327M
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CEMIP2

NM_013390.3:p.I327M

Associated Papers

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

Okumura A et al.

Seizure, 2019

PRRT2 mutation screening in patients with paroxysmal kinesigenic dyskinesia from Southwest China.

Chen YP et al.

European Journal of Neurology, 2014

PRRT2 mutation in Japanese children with benign infantile epilepsy.

Okumura A et al.

Brain & Development, 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."