Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.W287*
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EPM2A

NM_005670.4:p.W287*

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

A novel nonsense mutation of the EPM2A gene in northwest Greece causing myoclonic epilepsy.

Chatzistefanidis D et al.

Seizure, 2013

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