Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.Y263fs
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EPM2A

NM_005670.4:p.Y263fs

Associated Papers

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

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.

Ianzano L et al.

Human Mutation, 2004

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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."