KEGG   VARIANT: 4744v1
Entry
4744v1                      Variant                                
Name
NEFH mutation
Type
Loss of function
Gene
NEFH  neurofilament heavy chain [KO:K04574]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 162230
Network
nt06541  Cytoskeleton in neurons
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Reference
PMID:9931323
  Authors
Al-Chalabi A, Andersen PM, Nilsson P, Chioza B, Andersson JL, Russ C, Shaw CE, Powell JF, Leigh PN
  Title
Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis.
  Journal
Hum Mol Genet 8:157-64 (1999)
DOI:10.1093/hmg/8.2.157
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