Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.T21A
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NEFL

NM_006158.5:p.T21A

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

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

Huynh DT et al.

Biorxiv : the Preprint Server for Biology, 2023

Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants.

Sasaki T et al.

Human Molecular Genetics, 2006

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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."