KEGG   VARIANT: 56992v1
Entry
56992v1                      Variant                               
Name
KIF15 mutation
Type
Loss of function
Gene
KIF15  kinesin family member 15 [KO:K10400]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 617569
Network
nt06541  Cytoskeleton in neurons
Disease
H02663  Braddock-Carey syndrome
Reference
PMID:28150392
  Authors
Sleiman PMA, March M, Nguyen K, Tian L, Pellegrino R, Hou C, Dridi W, Sager M, Housawi YH, Hakonarson H
  Title
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
  Journal
Hum Mutat 38:507-510 (2017)
DOI:10.1002/humu.23188
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