Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.E469K
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NEFL

NM_006158.5:p.E469K

Associated Papers

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.

Bär H et al.

Human Mutation, 2007

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

Jordanova A et al.

Brain : a Journal of Neurology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."