KEGG   VARIANT: 2176v1
Entry
2176v1                      Variant                                
Name
FANCC mutation
Type
Loss of function
Gene
FANCC  FA complementation group C [KO:K10890]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613899
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:8103176
  Authors
Murer-Orlando M, Llerena JC Jr, Birjandi F, Gibson RA, Mathew CG
  Title
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.
  Journal
Lancet 342:686 (1993)
DOI:10.1016/0140-6736(93)91800-2
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