Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.P93L
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EPM2A

NM_005670.4:p.P93L

Associated Papers

Progressive myoclonic epilepsy: myoclonic epilepsy and ataxia due to KCNC1 mutation (MEAK): a case report and review of the literature.

Barot N et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2020

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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."