KEGG   VARIANT: 55851v1
Entry
55851v1                      Variant                               
Name
PSENEN mutation
Gene
PSENEN  presenilin enhancer, gamma-secretase subunit [KO:K06170]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607632
Network
nt06511  NOTCH signaling
Disease
H00681  Acne inversa
Reference
PMID:20929727
  Authors
Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X
  Title
Gamma-secretase gene mutations in familial acne inversa.
  Journal
Science 330:1065 (2010)
DOI:10.1126/science.1196284
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