Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.V172I
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DNASE1

NM_005223.4:p.V172I

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

31541133 (PubMed )
Supplement: 41598_2019_49935_MOESM2_ESM.pdf

Molecular Deconvolution Platform to Establish Disease Mechanisms by Surveying GPCR Signaling.

Masuho I et al.

Cell Reports, 2018

30021154 (PubMed )
Supplement: mmc2.pdf

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

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