Two rare mutations in homozygosity synergize to silence TREX1 in Aicardi-Goutières syndrome

BackgroundAicardi-Goutières syndrome (AGS) is a rare monogenic type I interferonopathy characterized by dysregulated inflammation and tissue damage that primarily affects the central nervous system. AGS is genetically diverse, with pathogenic variants across multiple genes, including TREX1, which dr...

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