KEGG   VARIANT: 4137v1
Entry
4137v1                      Variant                                
Name
MAPT mutation
Type
Loss of function
Gene
MAPT  microtubule associated protein tau [KO:K04380]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 157140
Network
nt06541  Cytoskeleton in neurons
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
H00077  Progressive supranuclear palsy
Reference
PMID:30742061
  Authors
Strang KH, Golde TE, Giasson BI
  Title
MAPT mutations, tauopathy, and mechanisms of neurodegeneration.
  Journal
Lab Invest 99:912-928 (2019)
DOI:10.1038/s41374-019-0197-x
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