KEGG   VARIANT: 7855v1
Entry
7855v1                      Variant                                
Name
FZD5 mutation
Type
Loss of function
Gene
FZD5  frizzled class receptor 5 [KO:K02375]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601723
Network
nt06505  WNT signaling
Disease
H01027  Microphthalmia
Reference
  Authors
Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA, Li T, Waskiewicz A, Brooks BP, Lehmann OJ, FitzPatrick DR, Swaroop A
  Title
A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
  Journal
Hum Mol Genet 25:1382-91 (2016)
DOI:10.1093/hmg/ddw020
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