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- [2] Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus Nature Genetics, 2006, 38 : 917 - 920
- [3] Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome FRONTIERS IN IMMUNOLOGY, 2025, 16
- [5] Aicardi-Goutières Syndrome with Congenital Glaucoma Caused by Novel TREX1 Mutation JOURNAL OF PERSONALIZED MEDICINE, 2023, 13 (11):
- [6] Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report Neurological Sciences, 2020, 41 : 3353 - 3356