Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.Y443N
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NEFL

NM_006158.5:p.Y443N

Associated Papers

O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations.

Huynh DT et al.

Nature Communications, 2023

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 2022

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Kim HJ et al.

Molecular Genetics & Genomic Medicine, 2022

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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."