UGDH Publications

A brilliant new publication about UGDH variants is hot off the press in Matrix Biology. This study, out of the Simpson Lab at North Carolina State University, examined three novel UGDH variants and concluded they are indeed pathogenic. This data will support the diagnosis of patients with those variants, but the study accomplished even more along the way. Crucially, the team advanced the workflow for functionalizing variants of uncertain significance (VUS) by demonstrating a