rs62636503
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
|
0.800 |
GeneticVariation |
UNIPROT |
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
|
26645395 |
2016 |
rs62636503
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
|
0.800 |
GeneticVariation |
UNIPROT |
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
|
25877835 |
2015 |
rs267607538
|
Entrez Id: |
4747 |
Gene Symbol: |
NEFL |
NEFL
|
Hereditary Motor and Sensory Neuropathy Type I
|
|
0.710 |
GeneticVariation |
BEFREE |
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.
|
18758688 |
2008 |
rs58332872
|
Entrez Id: |
4747 |
Gene Symbol: |
NEFL |
NEFL
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
|
25802885 |
2015 |
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
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 |
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
|
12481988 |
2002 |
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
|
11220745 |
2001 |
rs587777880
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
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 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
|
12481988 |
2002 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
|
11220745 |
2001 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
|
25802885 |
2015 |
rs587777881
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
|
12481988 |
2002 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
|
11220745 |
2001 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
|
25802885 |
2015 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
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 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
rs587777882
|
NEFL;MIR6841
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.700 |
GeneticVariation |
UNIPROT |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |