Varaico: Literature-Extracted Genetic Variants

Gene:SETDB1
Variant:p.T977I
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SETDB1

NM_001366418.1:p.T977I

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

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 321.156
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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."