Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.R108L
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EPM2A

NM_005670.4:p.R108L

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

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

Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.

Orsini A et al.

Journal of Neurology, 2022

Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlations.

Riva A et al.

Journal of the Neurological Sciences, 2021

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