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Cross-sectional Analysis of Exome Sequencing Diagnosis in Patients with Neurologic Phenotypes Facing Barriers to Clinical Testing

Prevalence of FGF14-mediated Spinocerebellar Ataxia 27B (SCA27B) in a United States Cohort

A Disease-specific Transcriptional Biomarker to Functionally Validate Rare Pathogenic Variants in SETX