Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.R241R
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EPM2A

NM_005670.4:p.R241R

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

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