Varaico: Literature-Extracted Genetic Variants

Gene:DNASE2
Variant:p.R314L
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DNASE2

NM_001375.3:p.R314L

Associated Papers

Seven nonsynonymous SNPs in the gene encoding human deoxyribonuclease II may serve as a functional SNP potentially implicated in autoimmune dysfunction.

Kimura-Kataoka K et al.

Electrophoresis, 2013

Distribution and haplotype analysis of all the non-synonymous and autoimmunity-related single nucleotide polymorphisms in the human deoxyribonuclease II gene using worldwide populations.

Kimura-Kataoka K et al.

Legal Medicine (tokyo, Japan), 2013

Genetic and expression analysis of SNPs in the human deoxyribonuclease II: SNPs in the promoter region reduce its in vivo activity through decreased promoter activity.

Kimura-Kataoka K et al.

Electrophoresis, 2012

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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."