New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants
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DOI: 10.1002/jdn.70019
Abstract: Pathogenic variants in nine genes (AGS1‐9) were mainly reported in patients with Aicardi–Goutières syndrome (AGS), which is a genetic disorder of the innate immune response associated with improper induction of Type I interferon (IFN). These… read more here.
Keywords: pathogenic rnaseh2b; samhd1; phenotypes associated; new phenotypes ... See more keywords