Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.Y263H
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EPM2A

NM_005670.4:p.Y263H

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

Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.

Liang T et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

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