Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.L311P
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NEFL

NM_006158.5:p.L311P

Associated Papers

The 2022 Lady Estelle Wolfson lectureship on neurofilaments.

Petzold A

Journal of Neurochemistry, 2022

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

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

Sainio MT et al.

Neurology. Genetics, 2018

Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Horga A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2017

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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."