KEGG   VARIANT: 80816v1
Entry
80816v1                      Variant                               
Name
ASXL3 mutation
Type
Loss of function
Gene
ASXL3  ASXL transcriptional regulator 3 [KO:K11471]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615115
Network
nt06523  Epigenetic regulation by Polycomb complexes
Disease
H02382  Bainbridge-Ropers syndrome
Reference
PMID:23383720
  Authors
Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH
  Title
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.
  Journal
Genome Med 5:11 (2013)
DOI:10.1186/gm415
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