Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.V249L
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EPM2A

NM_005670.4:p.V249L

Associated Papers

1H and 31P magnetic resonance spectroscopy reveals potential pathogenic and biomarker metabolite alterations in Lafora disease.

Chan KL et al.

Brain Communications, 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

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