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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTEN

Variant:p.A79delFs

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PTEN

NM_000314.8:p.A79delFs

hg38:chr10:87931070 CG>C

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."