Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.H253L
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EPM2A

NM_005670.4:p.H253L

Associated Papers

A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease.

Zhu Y et al.

Acta Neurologica Belgica, 2024

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

37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB1_EPM2A

Lafora disease in a Malaysian with a rare mutation in the EPM2A gene.

Tee SK et al.

Seizure, 2019

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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."