Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.E163*
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NEFL

NM_006158.5:p.E163*

Associated Papers

Neurofilaments in health and Charcot-Marie-Tooth disease.

Kotaich F et al.

Frontiers in Cell and Developmental Biology, 2023

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

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Sainio MT et al.

Neurology. Genetics, 2018

A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease.

Fu J et al.

Neuromuscular Disorders : Nmd, 2018

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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."