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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPM2A

Variant:p.C250S

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EPM2A

NM_005670.4:p.C250S

hg38:chr6:145627663 C>G

Associated Papers

Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329.

Sánchez-Martín P et al.

Plos One, 2013

23922729 (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."