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Cohort Analysis of New SPAST Mutations in SPG4 Patients and Implementation of Functional Studies Toidentify the Pathogenic Mechanism Caused by Splicing Mutations

Rosangela Ferese,Simona Scala, Federica Sammarone,Antonio Suppa,Rosa Campopiano,Francesco Asci,Alessandro Zampogna,Maria Antonietta Chiaravalloti, Annamaria Griguoli,Marianna Storto,Alessia Lombardi, Luana DiPilla,Milena Cannella,Alba Di Pardo,Emiliano Giardina,Stefania Zampatti,Mirco Fanelli,Stefano Gambardella

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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