KEGG   VARIANT: 120v1
Entry
120v1                      Variant                                 
Name
ADD3 mutation
Type
Loss of function
Gene
ADD3  adducin 3 [KO:K18622]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601568
Network
nt06541  Cytoskeleton in neurons
Disease
H01097  Spastic quadriplegic cerebral palsy
Reference
PMID:23836506
  Authors
Kruer MC, Jepperson T, Dutta S, Steiner RD, Cottenie E, Sanford L, Merkens M, Russman BS, Blasco PA, Fan G, Pollock J, Green S, Woltjer RL, Mooney C, Kretzschmar D, Paisan-Ruiz C, Houlden H
  Title
Mutations in gamma adducin are associated with inherited cerebral palsy.
  Journal
Ann Neurol 74:805-14 (2013)
DOI:10.1002/ana.23971
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