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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DSPP

Variant:p.E79delFs

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DSPP

NM_014208.3:p.E79delFs

hg38:chr4:87612420 AG>A

Associated Papers

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.

Minassian BA et al.

Neurology, 2000

10932264 (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."