Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D130A
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TREX1

NM_033629.6:p.D130A

Associated Papers

Gut metabolites identified in cerebrospinal fluid of genetic interferonopathy support gut-brain endothelial dysfunction.

Dale RC et al.

Clinical & Translational Immunology, 2026

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.

Li P et al.

Nucleic Acids Research, 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."