×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
25802885
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
Biomarker
GENOMICS_ENGLAND
Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.
23618875
2013
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
22206013
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
12481988
2002
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E .
11220745
2001
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
GeneticVariation
UNIPROT
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
10841809
2000
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
Biomarker
GENOMICS_ENGLAND
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
10841809
2000
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.950
Biomarker
CTD_human