KEGG   VARIANT: 2175v1
Entry
2175v1                      Variant                                
Name
FANCA mutation
Type
Loss of function
Gene
FANCA  FA complementation group A [KO:K10888]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607139
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
  Authors
Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, Kwee ML, de Ravel T, CG Mathew, et al.
  Title
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
  Journal
Eur J Hum Genet 7:52-9 (1999)
DOI:10.1038/sj.ejhg.5200248
LinkDB

DBGET integrated database retrieval system