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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TEDC2

Variant:p.R278_L279insFs

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TEDC2

NM_025108.3:p.R278_L279insFs

hg38:chr16:2462498 A>AT

Associated Papers

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.

Snape K et al.

Nature Genetics, 2011

21552266 (PubMed )

Supplement: NIHMS35167-supplement-1.pdf

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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."