KEGG   VARIANT: 10082v1
Entry
10082v1                      Variant                               
Name
GPC6 mutation
Type
Loss of function
Gene
GPC6  glypican 6 [KO:K08112]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604404
Network
nt06546  IgSF CAM signaling
Disease
H02154  Omodysplasia
Reference
PMID:19481194
  Authors
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxova A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafe L
  Title
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
  Journal
Am J Hum Genet 84:760-70 (2009)
DOI:10.1016/j.ajhg.2009.05.002
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