Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.L220Q
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EPM2A

NM_005670.4:p.L220Q

Associated Papers

Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.

Pondrelli F et al.

Orphanet Journal of Rare Diseases, 2023

A novel exon 3 mutation in a Tunisian patient with Lafora's disease.

Khiari HM et al.

Journal of the Neurological Sciences, 2011

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.

Lesca G et al.

Epilepsia, 2010

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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."