Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.S158*
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EPM2A

NM_005670.4:p.S158*

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

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

Ferlazzo E et al.

Epilepsia, 2014

Genetic diagnosis in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls.

Lohi H et al.

Neurology, 2007

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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."