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Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency

Author:

María Alcázar-Fabra,Elsebet Østergaard,Daniel J.M. Fernández-Ayala,María Andrea Desbats,Valeria Morbidoni,Laura Tomás-Gallado,Laura García-Corzo,María del Mar Blanquer-Roselló,Abigail K. Bartlett,Ana Sánchez-Cuesta,Lucía Sena,Ana Cortés-Rodríguez et al.

Publication:

Molecular Genetics and Metabolism Reports

Publisher:

Elsevier

Date:

March 2025

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