Article

Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic <i>Trex1</i> Missense Variants Affecting the Catalytic Core

2022-06-28

Abstract excerpt

The TREX1 exonuclease degrades DNA to prevent aberrant nucleic acid sensing through the cGAS-STING pathway, and dominant Aicardi-Goutières Syndrome type 1 (AGS1) represents one of numerous TREX1-related autoimmune diseases. Monoallelic TREX1 mutations were identified in patients showing early-onset cerebrovascular disease, ascribable to small vessel disease, and CADASIL-like neuroimaging. We report the clin...

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Literature Corpus work: 7e5b4bba-0c1e-5050-9c45-5e31fb597820
DOI: 10.20944/preprints202206.0372.v1

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