KEGG   VARIANT: 4744v2
Entry
4744v2                      Variant                                
Name
NEFH gain-of-function mutation
Type
Gain 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
H00264  Charcot-Marie-Tooth disease
Reference
  Authors
Rebelo AP, Abrams AJ, Cottenie E, Horga A, Gonzalez M, Bis DM, Sanchez-Mejias A, Pinto M, Buglo E, Markel K, Prince J, Laura M, Houlden H, Blake J, Woodward C, Sweeney MG, Holton JL, Hanna M, Dallman JE, Auer-Grumbach M, Reilly MM, Zuchner S
  Title
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
  Journal
Am J Hum Genet 98:597-614 (2016)
DOI:10.1016/j.ajhg.2016.02.022
LinkDB

DBGET integrated database retrieval system