Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.Y112fs
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EPM2A

NM_005670.4:p.Y112fs

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

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

Ganesh S et al.

Journal of Human Genetics, 2006

Lafora progressive Myoclonus Epilepsy mutation database-EPM2A and NHLRC1 (EPM2B) genes.

Ianzano L et al.

Human Mutation, 2005

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

Ianzano L et al.

Human Mutation, 2004

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.

Gómez-Garre P et al.

European Journal of Human Genetics : Ejhg, 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."