KEGG   VARIANT: 2178v1
Entry
2178v1                      Variant                                
Name
FANCE mutation
Type
Loss of function
Gene
FANCE  FA complementation group E [KO:K10892]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613976
Network
nt06508  Interstrand crosslink repair
Disease
H00238  Fanconi anemia
Reference
  Authors
Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M
  Title
The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
  Journal
Am J Hum Genet 64:1400-5 (1999)
DOI:10.1086/302385
Reference
  Authors
de Winter JP, Leveille F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H
  Title
Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
  Journal
Am J Hum Genet 67:1306-8 (2000)
DOI:10.1016/S0002-9297(07)62959-0
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