KEGG   VARIANT: 55215v1
Entry
55215v1                      Variant                               
Name
FANCI mutation
Type
Loss of function
Gene
FANCI  FA complementation group I [KO:K10895]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611360
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:17452773
  Authors
Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H
  Title
Identification of the Fanconi anemia complementation group I gene, FANCI.
  Journal
Cell Oncol 29:211-8 (2007)
DOI:10.1155/2007/151968
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