Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.R2S
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DNASE1

NM_005223.4:p.R2S

Associated Papers

Evaluation of the functional effects of genetic variants‒missense and nonsense SNPs, indels and copy number variations‒in the gene encoding human deoxyribonuclease I potentially implicated in autoimmunity.

Ueki M et al.

Scientific Reports, 2019

Identification of the functional alleles of the nonsynonymous single-nucleotide polymorphisms potentially implicated in systemic lupus erythematosus in the human deoxyribonuclease I gene.

Kimura-Kataoka K et al.

Dna and Cell Biology, 2014

Evaluation of all non-synonymous single nucleotide polymorphisms (SNPs) in the genes encoding human deoxyribonuclease I and I-like 3 as a functional SNP potentially implicated in autoimmunity.

Ueki M et al.

The Febs Journal, 2014

DNase1 exon2 analysis in Tunisian patients with rheumatoid arthritis, systemic lupus erythematosus and Sjögren syndrome and healthy subjects.

Belguith-Maalej S et al.

Rheumatology International, 2009

[Transcriptional regulation of factor IX promoter by HNF 4, ARP 1 and COUP].

Naka H

Rinsho Byori. the Japanese Journal of Clinical Pathology, 1997

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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."