KEGG   VARIANT: 2719v1
Entry
2719v1                      Variant                                
Name
GPC3 mutation
Type
Loss of function
Gene
GPC3  glypican 3 [KO:K08109]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300037
Network
nt06546  IgSF CAM signaling
Disease
H01215  Simpson-Golabi-Behmel syndrome
Reference
PMID:10814714
  Authors
Veugelers M, Cat BD, Muyldermans SY, Reekmans G, Delande N, Frints S, Legius E, Fryns JP, Schrander-Stumpel C, Weidle B, Magdalena N, David G
  Title
Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations  in the GPC3 gene.
  Journal
Hum Mol Genet 9:1321-8 (2000)
DOI:10.1093/hmg/9.9.1321
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