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Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Anne Rovelet-Lecrux,Antoine Bonnevalle,Olivier Quenez, Wandrille Delcroix,Kévin Cassinari,Anne-Claire Richard,Anne Boland,Jean-François Deleuze,Cyril Goizet,Alice Rucar,Christophe Verny,Karine Nguyen,Magalie Lecourtois,Gaël Nicolas

European Journal of Human Genetics（2024）

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