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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SIGLEC12

Variant:p.F64insFs

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SIGLEC12

NM_053003.4:p.F64insFs

hg38:chr19:51501542 G>GA

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."