Varaico: Literature-Extracted Genetic Variants

Gene:NEFM
Variant:p.A149V
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NEFM

NM_005382.2:p.A149V

Associated Papers

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

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 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."