Varaico: Literature-Extracted Genetic Variants

Gene:NEFL
Variant:p.E131G
Back to variants list

NEFL

NM_006158.5:p.E131G

Associated Papers

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

Lei L et al.

European Journal of Neurology, 2023

Autosomal recessive MFN2-related Charcot-Marie-Tooth disease with diaphragmatic weakness: Case report and literature review.

Tan CA et al.

American Journal of Medical Genetics. Part A, 2016

NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

Berciano J et al.

Journal of Neurology, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."