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Uselfulness of Biochemical Analyses As Functional Studies to Confirm the Pathogenicity of VUS in Inherited Metabolic Diseases

Laura Gort,Sonia Pajares,Blai Morales-Romero,Joan Anton Puig-Butille, Jose Villanueva-Canas,Xavier Sole, Aina Montalban-Casafont,Esther Titos,Eva Gonzalez-Roca, Carles Zaragoza-Bonet, Cristina Cutillas-Casado, Cristina Fernandez-Sierra, Patricia Alcala-Barrera, Laura Pacheco,Sonia Moliner, Ana Maria Valle-Duran,Tatiana Collado, Judit Perez,Antonia Ribes,Judit Garcia-Villoria

EUROPEAN JOURNAL OF HUMAN GENETICS(2024)

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