KEGG   VARIANT: 2187v1
Entry
2187v1                      Variant                                
Name
FANCB mutation
Type
Loss of function
Gene
FANCB  FA complementation group B [KO:K10889]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300515
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
PMID:15502827
  Authors
Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H
  Title
X-linked inheritance of Fanconi anemia complementation group B.
  Journal
Nat Genet 36:1219-24 (2004)
DOI:10.1038/ng1458
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