Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.A81_S82delFs
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TREX1

NM_033629.6:p.A81_S82delFs

Associated Papers

Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.

Rioux B et al.

Nature Communications, 2026

41593088 (PubMed )
Supplement: 41467_2025_67832_MOESM1_ESM.pdf

Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease.

McGlasson S et al.

Brain : a Journal of Neurology, 2025

40476824 (PubMed )
Supplement: awaf085_supplementary_data.pdf

Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation.

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.

Worth C et al.

Clinical Case Reports, 2020

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