Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.E28K
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EPM2A

NM_005670.4:p.E28K

Associated Papers

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

Brewer MK et al.

Iscience, 2021

Malin and laforin are essential components of a protein complex that protects cells from thermal stress.

Sengupta S et al.

Journal of Cell Science, 2011

Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.

Singh S et al.

Human Mutation, 2009

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

Ganesh S et al.

Journal of Human Genetics, 2006

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Minassian BA et al.

Neurology, 2000

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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."