Varaico: Literature-Extracted Genetic Variants

Gene:NEFH
Variant:p.V89M
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NEFH

NM_021076.4:p.V89M

Associated Papers

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."