Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
Isabella Peixoto de Barcelos(Children's Hospital of Philadelphia), Laura Adang(Children's Hospital of Philadelphia), Anjana Sevagamoorthy(Children's Hospital of Philadelphia), Francesco Gavazzi(Children's Hospital of Philadelphia), Nicholson Modesti(Children's Hospital of Philadelphia), Sarah Woidill(Children's Hospital of Philadelphia), Adeline Vanderver(Children's Hospital of Philadelphia)
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