Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.V111M
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DNASE1

NM_005223.4:p.V111M

Associated Papers

Impaired balance between neutrophil extracellular trap formation and degradation by DNases in COVID-19 disease.

Garcia G et al.

Journal of Translational Medicine, 2024

38454482 (PubMed )
Supplement: 12967_2024_5044_MOESM1_ESM.pdf

Next generation sequencing (NGS)-based approach to diagnosing Algerian patients with suspected inborn errors of immunity (IEIs).

Peng XP et al.

Clinical Immunology (orlando, Fla.), 2023

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

Functional Single Nucleotide Polymorphisms (SNPs) in the Genes Encoding the Human Deoxyribonuclease (DNase) Family Potentially Relevant to Autoimmunity.

Fujihara J et al.

Immunological Investigations, 2016

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

GATA5 activation of the progesterone receptor gene promoter in breast cancer cells is influenced by the +331G/A polymorphism.

Huggins GS et al.

Cancer Research, 2006

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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."