KEGG   VARIANT: 10225v1
Entry
10225v1                      Variant                               
Name
CD96 mutation
Type
Loss of function
Gene
CD96  CD96 molecule [KO:K06517]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606037
Network
nt06546  IgSF CAM signaling
Disease
H01008  C syndrome
Reference
  Authors
Kaname T, Yanagi K, Chinen Y, Makita Y, Okamoto N, Maehara H, Owan I, Kanaya F, Kubota Y, Oike Y, Yamamoto T, Kurosawa K, Fukushima Y, Bohring A, Opitz JM, Yoshiura K, Niikawa N, Naritomi K
  Title
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
  Journal
Am J Hum Genet 81:835-41 (2007)
DOI:10.1086/522014
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