Integrated clinical and biochemical evidence reveals pathogenicity of p.(Leu97Ile) in CMT1F, suggesting broader implications.
Integrated clinical, biochemical, and structural evidence support pathogenicity of p.(Leu97Ile) and suggest that p.(Arg206Ser) in cis augments its biological impact. These findings expand the genetic and phenotypic spectrum of NEFL-associated CMT1F.
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Oeztuerk et al. (2026) studied this question.
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