Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

Soriano-Sexto, A; Gallego, D; Leal, F; Castejon-Fernandez, N; Navarrete, R; Alcaide, P; Couce, ML; Martin-Hernandez, E; Quijada-Fraile, P; Pena-Quintana, L; Yahyaoui, R; Correcher, P; Ugarte, M; Rodriguez-Pombo, P; Perez, B – 2022