KEGG   VARIANT: 201163v1
Entry
201163v1                      Variant                              
Name
FLCN mutation
Type
Loss of function
Gene
FLCN  folliculin [KO:K09594]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607273
Network
nt06522  mTOR signaling
Disease
H00818  Birt-Hogg-Dube syndrome
Reference
  Authors
Napolitano G, Di Malta C, Esposito A, de Araujo MEG, Pece S, Bertalot G, Matarese M, Benedetti V, Zampelli A, Stasyk T, Siciliano D, Venuta A, Cesana M, Vilardo C, Nusco E, Monfregola J, Calcagni A, Di Fiore PP, Huber LA, Ballabio A
  Title
A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome.
  Journal
Nature 585:597-602 (2020)
DOI:10.1038/s41586-020-2444-0
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