KEGG   VARIANT: 2177v1
Entry
2177v1                      Variant                                
Name
FANCD2 mutation
Type
Loss of function
Gene
FANCD2  FA complementation group D2 [KO:K10891]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613984
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:11239453
  Authors
Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, Thayer M, Cox B, Olson S, D'Andrea AD, Moses R, Grompe M
  Title
Positional cloning of a novel Fanconi anemia gene, FANCD2.
  Journal
Mol Cell 7:241-8 (2001)
DOI:10.1016/S1097-2765(01)00172-1
LinkDB

DBGET integrated database retrieval system