Associated Papers
Compound Heterozygous Mutations of SACS in a Korean Cohort Study of Charcot-Marie-Tooth Disease Concurrent Cerebellar Ataxia and Spasticity.
Pi BK et al.
International Journal of Molecular Sciences, 2024
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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