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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SETDB1

Variant:p.K290Q

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SETDB1

NM_001366418.1:p.K290Q

hg38:chr1:150943046 A>C

Associated Papers

SETDB1 is required for intestinal epithelial differentiation and the prevention of intestinal inflammation.

Južnić L et al.

Gut, 2021

32503845 (PubMed )

Supplement: gutjnl-2020-321339supp003.xlsx › Sheet_1_-_gnomAD_v2.1.1_ENSG000

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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."