Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.N272K
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NEFL

NM_006158.5:p.N272K

Associated Papers

A review and analysis of the clinical literature on Charcot-Marie-Tooth disease caused by mutations in neurofilament protein L.

Stone EJ et al.

Cytoskeleton (hoboken, N.j.), 2021

Painful Charcot-Marie-Tooth neuropathy type 2E/1F due to a novel NEFL mutation.

Doppler K et al.

Muscle & Nerve, 2017

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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."