Varaico: Literature-Extracted Genetic Variants

Gene:EPM2A
Variant:p.H253Fs
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EPM2A

NM_005670.4:p.H253Fs

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

Genotypes and phenotypes of patients with Lafora disease living in Germany.

Brenner D et al.

Neurological Research and Practice, 2019

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