Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.E208K
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NEFL

NM_006158.5:p.E208K

Associated Papers

New evidence for secondary axonal degeneration in demyelinating neuropathies.

Moss KR et al.

Neuroscience Letters, 2021

Systematic review of CMTX1 patients with episodic neurological dysfunction.

Tian D et al.

Annals of Clinical and Translational Neurology, 2021

33314704 (PubMed )
Supplement: ACN3-8-213-s001.docx

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

Song S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients.

Song SJ et al.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 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."