KEGG   VARIANT: 2239v1
Entry
2239v1                      Variant                                
Name
GPC4 mutation
Type
Loss of function
Gene
GPC4  glypican 4 [KO:K08110]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300168
Network
nt06546  IgSF CAM signaling
Disease
H02326  Keipert syndrome
Reference
  Authors
Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumic M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ
  Title
Pathogenic Variants in GPC4 Cause Keipert Syndrome.
  Journal
Am J Hum Genet 104:914-924 (2019)
DOI:10.1016/j.ajhg.2019.02.026
LinkDB

DBGET integrated database retrieval system