rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
|
27549087 |
2016 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
|
25802885 |
2015 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
|
25877835 |
2015 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
To investigate the effects of NEFL Glu396Lys mutation on the expression and assembly of neurofilaments (NFs) in cutaneous nerve fibers of patients with Charcot-Marie-Tooth disease type 2E (CMT2E).
|
26109717 |
2015 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
BEFREE |
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
|
24887401 |
2014 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E.
|
24887401 |
2014 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
|
22288874 |
2012 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
|
21493625 |
2011 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
|
19158810 |
2009 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
|
17052987 |
2007 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
|
15241803 |
2004 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
T |
0.810 |
CausalMutation
|
CLINVAR |
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
|
14733962 |
2004 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
|
12481988 |
2002 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
|
11220745 |
2001 |
rs62636503
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
|
0.810 |
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 |