Associated Papers
Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.
Maino A et al.
Journal of the Peripheral Nervous System : Jpns, 2025
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Terkelsen T et al.
American Journal of Human Genetics, 2024
Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Taniguchi T et al.
Clinical Genetics, 2021
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