GeneticsGenetics in MedicinePeer-reviewed
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
Francisco del Caño‐Ochoa, Bobby G. Ng, Malak Abedalthagafi…·Santiago Ramón‐Maiques
The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.
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