KEGG   VARIANT: 8323v1
Entry
8323v1                      Variant                                
Name
FZD6 mutation
Type
Loss of function
Gene
FZD6  frizzled class receptor 6 [KO:K02376]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603409
Network
nt06505  WNT signaling
Disease
H01307  Nonsyndromic congenital nail disorder
Reference
PMID:22211385
  Authors
Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC
  Title
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
  Journal
Br J Dermatol 166:1088-94 (2012)
DOI:10.1111/j.1365-2133.2011.10800.x
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