Associated Papers
An NEFH founder mutation causes broad phenotypic spectrum in multiple Japanese families.
Ando M et al.
Journal of Human Genetics, 2022
Charcot-Marie-Tooth disease type 2CC due to NEFH variants causes a progressive, non-length-dependent, motor-predominant phenotype.
Pipis M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2022
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