Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.P93P
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EPM2A

NM_005670.4:p.P93P

Associated Papers

An empirical pipeline for personalized diagnosis of Lafora disease mutations.

Brewer MK et al.

Iscience, 2021

A novel EPM2A mutation yields a slow progression form of Lafora disease.

Garcia-Gimeno MA et al.

Epilepsy Research, 2018

Extraneurological sparing in long-lived typical Lafora disease.

Goldsmith D et al.

Epilepsia Open, 2018

Late onset Lafora disease and novel EPM2A mutations: breaking paradigms.

Jara-Prado A et al.

Epilepsy Research, 2014

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