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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPM2A

Variant:p.G30_R39del0

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EPM2A

NM_005670.4:p.G30_R39del0

hg38:chr6:145735382 GCGGACGGCACCGCGCGGCTCCCAACGC>G

Associated Papers

A novel compound heterozygous EPM2A variant in a Chinese family with Lafora disease.

Zhu Y et al.

Acta Neurologica Belgica, 2024

38407811 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."