Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.S441F
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NEFL

NM_006158.5:p.S441F

Associated Papers

Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.

Stone EJ et al.

Cytoskeleton (hoboken, N.j.), 2019

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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."