KEGG   VARIANT: 1830v1
Entry
1830v1                      Variant                                
Name
DSG3 mutation
Type
Loss of function
Gene
DSG3  desmoglein 3 [KO:K07598]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutaitons
OmimVar: 169615
Network
nt06545  Cornified envelope formation
Disease
H02648  Acantholytic blistering of the oral and laryngeal mucosa
Reference
  Authors
Kim JH, Kim SE, Park HS, Lee SH, Lee SE, Kim SC
  Title
A Homozygous Nonsense Mutation in the DSG3 Gene Causes Acantholytic Blisters in the Oral and Laryngeal Mucosa.
  Journal
J Invest Dermatol 139:1187-1190 (2019)
DOI:10.1016/j.jid.2018.09.038
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