Varaico: Literature-Extracted Genetic Variants

Gene:DNASE2
Variant:p.G116A
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DNASE2

NM_001375.3:p.G116A

Associated Papers

Type I interferon-mediated autoinflammation in two unrelated patients due to a proximal intronic splice site variant in DNASE2.

Schnappauf O et al.

Research Square, 2025

A young boy with rash, arthritis, and developmental delay: Monogenic lupus due to DNASE2 gene defect.

Basu S et al.

International Journal of Rheumatic Diseases, 2023

Dysregulation of the cGAS-STING Pathway in Monogenic Autoinflammation and Lupus.

Wobma H et al.

Frontiers in Immunology, 2022

An Update on Autoinflammatory Diseases: Interferonopathies.

Davidson S et al.

Current Rheumatology Reports, 2018

Type I interferon-mediated autoinflammation due to DNase II deficiency.

Rodero MP et al.

Nature Communications, 2017

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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."