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EXPLORING THE MISSING LINK BETWEEN PRIMARY CILIA AND NEURODEVELOPMENTAL DISORDERS: THE CASE OF A NOVEL MBD5 VARIANT IN A PATIENT WITH SEVERE EPILEPSY

Mariana Martins, Ana RafaelaOliveira,Giuseppe Cammarata,Solange Martins,Pedro Perdigao,Ana Luisa Cardoso,Paulo Palma,Diana B. Sequeira,Joao Miguel Santos,Jose Pedro Vieira,Luis P. Almeida,Frederico Duque,Guiomar Oliveira,Joao Peca,Catarina M. Seabra

MEDICINE（2023）

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