KEGG   VARIANT: 80233v1
Entry
80233v1                      Variant                               
Name
FAAP100 mutation
Type
Loss of function
Gene
FAAP100  FA core complex associated protein 100 [KO:K10993]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611301
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:40244696
  Authors
Harrison BA, Mizrahi-Powell E, Pappas J, Thomas K, Vasishta S, Hebbar S, Shukla A, Nayak SS, Truong TK, Woroch A, Kharbutli Y, Gelb BD, Mintz CS, Evrony GD, Smogorzewska A
  Title
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.
  Journal
J Clin Invest 135:185126 (2025)
DOI:10.1172/JCI185126
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