Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.F104V
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NEFL

NM_006158.5:p.F104V

Associated Papers

Novel Genetic and Biochemical Insights into the Spectrum of NEFL-Associated Phenotypes.

Della Marina A et al.

Journal of Neuromuscular Diseases, 2024

Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center.

Uchôa Cavalcanti EB et al.

Journal of the Peripheral Nervous System : Jpns, 2021

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P et al.

Orphanet Journal of Rare Diseases, 2016

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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."