De novo FRMD5 Missense Variants in Patients with Childhood-Onset Ataxia, Prominent Nystagmus, and Seizures

Ignacio J. Keller Sarmiento, Bernabe I. Bustos, Joanna Blackburn, Nicholas E.F. Hac, Maura Ruzhnikov, Matthea Monroe, Rebecca J. Levy, Lisa Kinsley, Megan Li, Vincenzo Silani, Steven J. Lubbe, Dimitri Krainc, Niccolò E. Mencacci*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology

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Medicine and Dentistry

Neuroscience