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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLF2

Variant:p.S990S

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SLF2

NM_018121.4:p.S990S

hg38:chr10:100947074 C>G

Associated Papers

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

Grange LJ et al.

Nature Communications, 2022

36333305 (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."