Associated Papers
De novo somatic mosaicisms of INF2 and TRPV4 in patients with Charcot-Marie-Tooth disease.
Lee AJ et al.
Genes & Genomics, 2025
Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.
Della Marina A et al.
Journal of Neuromuscular Diseases, 2024
Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.
Chao HC et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2023
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