Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.D200_V201ins0
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TREX1

NM_033629.6:p.D200_V201ins0

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_MOESM4_ESM.xlsx › Fig_4B

Aicardi-Goutières Syndrome Type 1: A Novel Missense Variant and Review of the Mutational Spectrum.

Tasharrofi B et al.

Iranian Journal of Child Neurology, 2024

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

Świerczyńska M et al.

Journal of Personalized Medicine, 2023

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Crow YJ et al.

American Journal of Medical Genetics. Part A, 2015

25604658 (PubMed )
Supplement: supplement_1.docx

Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

Crow YJ et al.

Nature Genetics, 2006

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