rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
12477167
2002
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
12566280
2003
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
19158810
2009
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
25552649
2015
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
25448007
2015
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
26645395
2016
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
C
0.700
CausalMutation
CLINVAR
N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.
27206872
2016